An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).
The informal or formal organization of a group of people based on a network of personal relationships which is influenced by the size and composition, etc., of the group.

Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene. (1/48)

Spinal neurofibromatosis (SNF) is considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors and cafe-au-lait macules. Involvement of the neurofibromatosis type 1 (NF1) locus has been demonstrated, by linkage analysis, for three families with SNF. In one of them, a cosegregating frameshift mutation in exon 46 of the NF1 gene was identified. In the present study, we report four individuals from two families who carry NF1 null mutations that would be expected to cause NF1. Three patients have multiple spinal tumors and no cafe-au-lait macules, and the fourth has no clinical signs of NF1. In the first family, a missense mutation (Leu2067Pro) in NF1 exon 33 was found, and, in the second, a splice-site mutation (IVS31-5A-->G) enlarging exon 32 by 4 bp at the 5' end was found. The latter mutation has also been observed in an unrelated patient with classical NF1. Both NF1 mutations cause a reduction in neurofibromin of approximately 50%, with no truncated protein present in the cells. This demonstrates that typical NF1 null mutations can result in a phenotype that is distinct from classical NF1, showing only a small spectrum of the NF1 symptoms, such as multiple spinal tumors, but not completely fitting the current clinical criteria for SNF. We speculate that this phenotype is caused by an unknown modifying gene that compensates for some, but not all, of the effects caused by neurofibromin deficiency.  (+info)

A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple cafe-au-lait spots. (2/48)

Individuals with a germ-line mutation in one of the DNA mismatch repair (MMR) genes are at significant risk for colorectal cancer and other tumors. Three families have previously been reported with individuals homozygous for mutations in the MMR gene MLH1 that are predicted to compromise MMR. These individuals develop hematological malignancies and/or neurofibromatosis type 1 at an early age. Here, in an individual, we demonstrate that a homozygous novel mutation in the MMR gene MSH2 is associated with leukemia and multiple cafe-au-lait spots, a feature of neurofibromatosis type 1. Because the hematological malignancies observed in the individuals homozygous for the loss of MMR are reflective of the lymphomas seen in mice lacking MMR, the mice may provide a useful model for human neoplasia.  (+info)

A case of non-Hodgkin's lymphoma in a patient with neurofibromatosis type 1. (3/48)

Neurofibromatosis type 1 is characterized by cutaneous neurofibromas and pigmented lesions of the skin called cafe au lait spots. Although neurofibromatosis type 1 represents a major risk factor for the development of malignancy, especially of nervous system tumors, malignant lymphoma rarely occurs in a patients with neurofibromatosis type 1. Recently, a 77-year-old woman with neurofibromatosis type 1 was diagnosed as non-Hodgkin's Lymphoma (diffuse large B cell). She had multiple cafe au lait spots, neurofibromas and right axillary lymph node enlargement. An abdominal CT scan demonstrated a left pelvic mass and para-aortic lymphadenopathy. Because non-Hodgkin's Lymphoma in a neurofibromatosis patient has never been reported in Korea, herein, we describe this case and include a review of the literature.  (+info)

Common hyperpigmentation disorders in adults: Part I. Diagnostic approach, cafe au lait macules, diffuse hyperpigmentation, sun exposure, and phototoxic reactions. (4/48)

The cause of hyperpigmentation usually is traced to the activity and presence of melanocytes. Cafe au lait macules may be solitary benign findings or may indicate the presence of neurofibromatosis with its associated complications. Diffuse hyperpigmentation should prompt a search for offending medications or systemic diseases such as hemochromatosis, hyperthyroidism, and Addison's disease. In these instances, the hyperpigmentation may be ameliorated by discontinuing offending medications, performing serial phlebotomy in patients with hemochromatosis, instituting cause-specific treatments in patients with hyperthyroidism, and replacing deficient glucocorticoids and mineralocorticoids in patients with Addison's disease. Cosmetic treatment with bleaching agents or lasers can be used to decrease pigmentation of ephelides (freckles) and lentigines.  (+info)

Cafe au lait has hue of its own. (5/48)

Segmental pigmentation disorder is a pigmentation disorder (hypo- or hyperpigmentation) first described some 20 years ago. It appears early in life, is segmental, and usually has a sharp border in the midline. It can be confused clinically and histologically with several pigmentary disorders, especially with giant or segmental cafe-au-lait macules. The purpose of this article is to promote, revive, and refresh this somewhat neglected entity, and to further subdivide it into two types: segmental pigmentation disorder simplex and segmental cafe-au-lait. We illustrate our contention with case reports.  (+info)

The use of lasers and intense pulsed light sources for the treatment of pigmentary lesions. (6/48)

Lasers and intense pulsed light sources are frequently used for the treatment of pigmented lesions, and the appropriate selection of devices for different lesions is vital to achieving satisfactory clinical outcomes. In dark-skinned patients, the risk of post-inflammatory hyperpigmentation is of particular importance. In general, long-pulse laser and intense pulsed light sources can be effective with a low risk of post-inflammatory hyperpigmentation (PIH) when used for the treatment of lentigines. However, for dermal pigmentation and tattoo, Q-switched lasers are effective, with a lower risk of complications. In the removal of melanocytic nevi, a combined approach with a long-pulse pigmented laser and a Q-switched laser is particularly applicable.  (+info)

Autoimmune haemolysis as an unusual cause of anaemia in von Recklinghausen's disease. (7/48)

Von Recklinghausen's disease, now classified as neurofibromatosis type 1 (NF-1), is a relatively frequent autosomal dominant disorder and has clinical manifestations, such as cafe-au-lait spots, freckling, generalised cutaneus neurofibroma, Lisch nodules, short stature, optic glioma and central nervous system tumours. In adults, anaemia in the course of NF-1 is usually due to gastrointestinal tumour bleeding. Association of NF-1 and autoimmune haemolytic anaemia is unusual. Here, we report a 48-year-old woman with NF-1 presenting as autoimmune haemolytic anaemia. We also reviewed the literature about the association of NF-1 and autoimmune diseases.  (+info)

The use of lasers in the pediatric population. (8/48)

Over the past 2 decades, there have been numerous advances in laser therapy of birth-marks in the pediatric population. Concerns regarding efficacy, overall benefit, and side-effects linger. We present our opinion, based upon decades of clinical experience, on the role of lasers to treat port wine stains, superficial hemangiomas, and cafe au lait macules in children.  (+info)

Neurofibromatosis 1 (NF1) is a genetic disorder that affects the development and growth of nerve tissue. It's also known as von Recklinghausen disease. NF1 is characterized by the growth of non-cancerous tumors on the nerves, as well as skin and bone abnormalities.

The symptoms of Neurofibromatosis 1 can vary widely, even among members of the same family. Some common features include:

* Multiple café au lait spots (flat, light brown patches on the skin)
* Freckles in the underarms and groin area
* Benign growths on or under the skin called neurofibromas
* Larger, more complex tumors called plexiform neurofibromas
* Optic gliomas (tumors that form on the optic nerve)
* Distinctive bone abnormalities, such as a curved spine (scoliosis) or an enlarged head (macrocephaly)
* Learning disabilities and behavioral problems

Neurofibromatosis 1 is caused by mutations in the NF1 gene, which provides instructions for making a protein called neurofibromin. This protein helps regulate cell growth and division. When the NF1 gene is mutated, the production of neurofibromin is reduced or absent, leading to uncontrolled cell growth and the development of tumors.

NF1 is an autosomal dominant disorder, which means that a person has a 50% chance of inheriting the mutated gene from an affected parent. However, about half of all cases are the result of new mutations in the NF1 gene, and occur in people with no family history of the disorder.

There is currently no cure for Neurofibromatosis 1, but treatments are available to manage the symptoms and complications of the disease. These may include medications to control pain or reduce the size of tumors, surgery to remove tumors or correct bone abnormalities, and physical therapy to improve mobility and strength. Regular monitoring by a healthcare team experienced in treating Neurofibromatosis 1 is also important to detect any changes in the condition and provide appropriate care.

Café-au-lait spots are light to dark brown, flat patches on the skin that are benign and usually harmless. The term "café-au-lait" means "coffee with milk," which describes the color of these spots. They can vary in size from a few millimeters to several centimeters in diameter and can appear anywhere on the body, although they are most commonly found on the trunk and buttocks.

While café-au-lait spots are common and can occur in up to 20% of the general population, having multiple (more than six) such spots, especially if they are large or present at birth, may be a sign of an underlying medical condition, such as neurofibromatosis type 1 (NF1), a genetic disorder that affects the growth and development of nerve tissue.

Therefore, it is essential to monitor café-au-lait spots and report any changes or concerns to a healthcare provider.

I'm sorry for any confusion, but "group structure" is not a commonly used medical term or concept. The term "group structure" may be used in various contexts such as group therapy, support groups, or organizational structures within healthcare settings. However, it does not have a specific medical definition that applies universally.

In the context of group therapy or support groups, "group structure" might refer to the rules, roles, and dynamics that govern how the group functions and interacts. This can include aspects such as:

* Group size
* Frequency and duration of meetings
* Leadership style (e.g., leader-led vs. peer-led)
* Rules for participation and confidentiality
* Roles assumed by individual members
* Communication norms within the group

If you're referring to a different context or need more specific information, please provide additional details so I can give a more accurate response.

Familial multiple cafe au lait spots, also known as Autosomal dominant multiple cafe au lait spots or Neurofibromatosis type 6 ... "Orphanet: Familial cafe au lait spots". www.orpha.net. Retrieved 2022-06-02. "OMIM Entry - 114030 - CAFE-AU-LAIT SPOTS, ... "Multiple café-au-lait spots". 16 June 2022. Madson, Justin G. (2012-05-15). "Multiple or familial café-au-lait spots is ... Sporadic cases may be called "Sporadic multiple cafe au lait spots". Few cases have been described in medical literature, ...
"Cafe Au Lait Spots", by William D James, MD Cafe Au Lait Spots Whyte, M. P.; Podgornik, M. N.; Zerega, J.; Reinus, W. R. (2000 ... Café au lait spots, or café au lait macules, are flat, hyperpigmented birthmarks. The name café au lait is French for "coffee ... Café au lait spots are usually present at birth, permanent, and may grow in size or increase in number over time. Cafe au lait ... Wikimedia Commons has media related to Café au lait spot. Look up cafe au lait or macule in Wiktionary, the free dictionary. ...
... (LS) is an autosomal dominant condition characterized by cafe au lait spots. It was first described in 2007 and ... Nearly all individuals with Legius syndrome show multiple café au lait spots on their skin. Symptoms may include: Freckles in ... Zhang, Jia (2016). "Molecular screening strategies for NF1-like syndromes with café-au-lait macules". Molecular Medicine ...
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... cafe-au-lait spots MeSH C23.888.885.312 - ecchymosis MeSH C23.888.885.375 - jaundice MeSH C23.888.885.375.500 - jaundice, ...
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Apple Amazake Bakeable custard Baked potato Banana Blueberry cheesecake Brown sugar syrup Butter Cafe au lait Cantaloupe ... "Nestle claims chocolate top spot over Meiji in Japan". Confectionerynews.com. Retrieved 10 February 2016. Madden, Normandy. " ... The cafe shop Pronto has introduced croissants incorporating Kit Kats. Pizza chains Napoli no Kama and Strawberry Cones ... introduced to Japan in 1973 when British confectioner Rowntree's made an agreement with Japanese confectioner and restaurant ...
In medicine, it is also used to describe a birthmark that is of a light-brown color (café au lait spot). calque a copied term/ ... crêperie a takeaway restaurant or stall, serving crêpes as a form of fast food or street food, or may be a more formal sit-down ... au courant up-to-date; abreast of current affairs. au fait being conversant in or with, or instructed in or with. au gratin " ... au revoir ! "See you later!" In French, a contraction of Au plaisir de vous revoir ('to the pleasure of seeing you again'). au ...
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Cacchi-Ricci disease CACH syndrome Café au lait spots syndrome Caffeine-induced sleep disorder Caffey disease CAHMR syndrome ... CHILD syndrome ichthyosis Childhood disintegrative disorder Childhood pustular psoriasis Chimerism Chinese restaurant syndrome ...
Louis Cathedral, the French Market (including Café du Monde, famous for café au lait and beignets) and Preservation Hall. Also ... 1 U.S. hit "Chapel of Love" by the Dixie Cups, a song which knocked the Beatles out of the top spot on the Billboard Hot 100. ... By 2008, Brazilians had opened many small churches, shops and restaurants catering to their community. Among the growing Asian ... served with café au lait made with a blend of coffee and chicory rather than only coffee); and po' boy and Italian muffuletta ...
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... lait, un thé, ou un café en deux formats. Ommelette, McMuffin au jambon, rôties un frits avec bacon, œuf McMuffin, muffin ... Restaurant for the whole family) (2015-present) Das etwas andere Restaurant (The somewhat different restaurant) (1971-1977) ... Good time, Great Taste, McDonald's! Here's the spot! Good Time, Great Taste. That's why this is our place! The Good Time, Great ... This is a list of marketing promotions by McDonald's restaurants. Here is a partial list of slogans: استمتع بالفرق (Enjoy the ...
Cafe Au Lait (Brunel Music, 2004) Philip Catherine, Babel (Elektra, 1980) David Christie, Love Is The Most Important Thing ( ... He was spotted by a lady who was the wife of John Tosan, and was presented to the brothers John Rob alias Jean-Claude and James ... Dutronc Au Casino (Columbia, 1992) Jacques Dutronc, Breves Rencontres (Columbia, 1995) Christine Delaroche, Au Feminin ( ... 1 Au Pays Des Merveilles de Juliet (RCA Victor, 1973) Respirer, Chanter (RCA Victor, 1974) Un Autre Desir (RCA Victor, 1977) ...
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Familial multiple cafe au lait spots, also known as Autosomal dominant multiple cafe au lait spots or Neurofibromatosis type 6 ... "Orphanet: Familial cafe au lait spots". www.orpha.net. Retrieved 2022-06-02. "OMIM Entry - 114030 - CAFE-AU-LAIT SPOTS, ... "Multiple café-au-lait spots". 16 June 2022. Madson, Justin G. (2012-05-15). "Multiple or familial café-au-lait spots is ... Sporadic cases may be called "Sporadic multiple cafe au lait spots". Few cases have been described in medical literature, ...
... or café au lait (CAL) macules (CALMs), are hyperpigmented lesions that may vary in color from light brown to dark brown; this ... encoded search term (Cafe Au Lait Spots) and Cafe Au Lait Spots What to Read Next on Medscape ... Café au lait spots, or café au lait (CAL) macules (CALMs), are hyperpigmented lesions that may vary in color from light brown ... Cafe au lait spots: the pediatricians perspective. Pediatr Rev. 2001 Mar. 22(3):82-90. [QxMD MEDLINE Link]. ...
... or café au lait (CAL) macules (CALMs), are hyperpigmented lesions that may vary in color from light brown to dark brown; this ... encoded search term (Cafe Au Lait Spots) and Cafe Au Lait Spots What to Read Next on Medscape ... Café au lait spots, or café au lait (CAL) macules (CALMs), are hyperpigmented lesions that may vary in color from light brown ... Cafe au lait spots: the pediatricians perspective. Pediatr Rev. 2001 Mar. 22(3):82-90. [QxMD MEDLINE Link]. ...
... and Mongolian spots. Birthmarks can be red or other colors. ... and Mongolian spots. Birthmarks can be red or other colors. ... Cafe-au-lait spots are common at or after birth. Someone who has many of these spots may have a genetic disorder called ... Birthmarks include cafe-au-lait spots, moles, and Mongolian spots. Birthmarks can be red or other colors. ... Cafe-au-lait spots are light tan, the color of coffee with milk. ... Mongolian spots (also called Mongolian blue spots) are usually ...
These are known as cafe-au-lait spots. A child may also have skin tumors that are not cancer (benign). These are called ... and cafe-au-lait spots. ...
Skin anomalies (cafe au lait spots, hypersensitivity to sunlight). *Congenital anomalies, facial dysmorphisms and intellectual ...
1. cafe-au-lait spot (birthmark)​. Details ▸ さくし カフェウォール錯視 ... 2. Café au lait​Café au lait (coffee with milk) is a French coffee drin... Read more ... 3. Café​A café, also spelled cafe, in most countries refers to an... Read more ...
Mongolian blue spots14 ,15 ,20; and cafe au lait spots.10 Therefore, errors in diagnosis can occur14 and a mistaken diagnosis ...
Skin features include sebaceous cysts, hyperpigmented and cafe au lait spots.. Defects in MLH1 are a cause of Muir-Torre ...
The cardinal features are cafe au lait spots, small soft fleshy growth known as neurofibromata and Lisch nodules in the iris. ...
Cafe au lait spots. Calcium disorders. Candidiasis. Cardiac. Cardiac physiology. Cataracts. Cerebral palsy. CHARGE. Choanal ...
cafe-au-lait spots, light-brown spots that may deepen in color (or even first appear) as the child grows older. Theyre usually ... Mongolian spots, flat patches of slate-blue or blue-green color that look like ink stains on the back, buttocks, or elsewhere ... Milia: Tiny, flat, yellow or white spots on the nose and chin, which are caused by the collection of secretions in skin glands ... When your newborn opens their mouth to yawn or cry, you may notice some small white spots on the roof of the mouth, usually ...
cafe-au-lait spots, light-brown spots that may deepen in color (or even first appear) as the child grows older. Theyre usually ... Mongolian spots, flat patches of slate-blue or blue-green color that look like ink stains on the back, buttocks, or elsewhere ... Milia: Tiny, flat, yellow or white spots on the nose and chin, which are caused by the collection of secretions in skin glands ... When your newborn opens their mouth to yawn or cry, you may notice some small white spots on the roof of the mouth, usually ...
pigmentation (cafe au lait spots) and, in 20-50 percent of patients,. tumors on the nerve sheaths (plexiform neurofibromas). ...
Tache Café-au-lait Cafe-au-lait spot (CALS) Epine calcanéene Calcaneal spur […]. ...
Childhood T-cell non-Hodgkins lymphoma, colorectal carcinoma and brain tumor in association with cafe-au-lait spots caused by ... Notably, physical examination found several café-au-lait spots ,and rectal endoscopy showed no polyps or tumours. A similar ... café-au-lait spots (CLS) and/or other signs of neurofibromatosis type 1 (NF1). Alluding to the underlying genetic defect, we ...
Are there areas of hyperpigmentation (cafe-au-lait spots)? Yes;No;NK Yes=1; No=N; No=n; Yes=y; Yes=y; NK=3; No=0 ... Are there areas of hypopigmentation (ash-leaf spots)? Yes;No;NK Yes=y; No=0; NK=3; Yes=y; No=N; Yes=1; No=n ... Aliases: A list of currently supported Aliases (alternate element names) * For valid elements with shared data, on the far left ...
The tiled old-world gem that is Croissant DOr is a must for breakfast as well as a chill spot for a cafe au lait. ... Cafe du Monde is probably too hectic to linger at, but its beignets and cafe au lait are legendary. The Royal Street Cafe ... And if you want an only-in-New-Orleans experience (and beignets), head to Cafe Du Monde or Cafe Beignet (with four locations in ... Theres a weekly co-working option, indoor bike parking, and lots of cafes and restaurants within walking distance. ...
Example of pleiotropy: characterized by growth of benign fleshy tumors (neurofibromas), cafe au lait spots, & freckling of the ... visualization of the array gives information about the spots/color intensities for each probe, which correspond to variation in ... alternate (normal/balanced gametes), adjacent 1 and adjacent 2 (partial trisomy/monosomy gametes) ...
O Few cafe-au-lait spots,O Fibroadenoma of the breast,O Fibroblast metachromasia,O Fibrocystic lung disease,O Fibrofolliculoma, ... O Multiple cafe-au-lait spots,O Multiple carpal ossification centers,O Multiple cutaneous leiomyomas,O Multiple cutaneous ... O Cafe-au-lait spot,O Calcaneal epiphyseal stippling,O Calcaneonavicular fusion,O Calcaneovalgus deformity,O Calcific stippling ... O Large cafe-au-lait macules with irregular margins,O Large capitate bone,O Large carpal bones,O Large cell lung carcinoma,O ...
63 99 00 Cafe au lait spot (area), eyelid 63 99 00 Disease, eyelid, type specified NEC 63 99 00 Epicanthus (fold) 63 99 00 Fold ... ITEM DESCRIPTION & CODES Counts HANES I Data Source Ophthalmology Examination Recording Form CONJUNCTIVA 358 Bitots Spot 1 - ... spot) 76 94 00 Salt and pepper fundus 76 94 08 Other checked, not described, pigment changes, retina 76 94 40 Atrophy, ... spot) (superior) (temporal) 77 00 00 Pailor, disc (temporal) 77 00 00 Scar, disc 77 00 08 Other checked, not described, disc ...
... a popular tourist spot). Beignets and cafe au lait hit the spot and tourists immediately began to swarm us like papparizi ... But Chinese restaurants welcomed everyone. As a result, even in the 1890s both Jews and Italians usually felt more at home in ... We eventually stopped in a restaurant for a little lunch - you would think it would be hard to find food on a day so crowded, ... However, it wasnt so long ago, Chinese restaurants were about the only option for eating out on Christmas day. Another bonus ...
Cafe-Au-Lait Spots In addition to linear epidermal nevus, woolly hair nevus can be associated with nevus comedonicus, Cafe-au- ... lait spots, hypopigmented patches, hemangiomas, multiple nevi, (both congenital and acquired), precocious puberty, [10] and ...
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An examination of her appearance revealed a healthy-looking female with multiple cafe au lait spots. Examination of the left ...
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Cafe Au Lait Spots. *Nevus of Ota. *Brown Marks. Vascular Birth Marks. *Spider Naevi ... Now you can safely remove birthmarks whether they are brown spots or red vascular pigmentation lesions, all non-invasive, with ...
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Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and ...
  • Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules. (medscape.com)
  • Artzi O, Mehrabi JN, Koren A, Niv R, Lapidoth M, Levi A. Picosecond 532-nm neodymium-doped yttrium aluminium garnet laser-a novel and promising modality for the treatment of café-au-lait macules. (medscape.com)
  • Response to Laser Treatment of Café au Lait Macules Based on Morphologic Features. (medscape.com)
  • A low-fluence 1064-nm Q-switched neodymium-doped yttrium aluminium garnet laser for the treatment of café-au-lait macules. (medscape.com)
  • Wang Y, Qian H, Lu Z. Treatment of café au lait macules in Chinese patients with a Q-switched 755-nm alexandrite laser. (medscape.com)
  • In patients with café au lait macules, neurofibromatosis should be analyzed first and, if negative, SPRED1 testing considered ( photo by Andreas Werle ). (medscape.com)
  • It is characterized by multiple café au lait macules, skin-fold freckling, and tumors of the nervous system. (medscape.com)
  • It is characterized mainly by café au lait macules, axillary freckling, and macrocephaly. (medscape.com)
  • We recommend that neurofibromatosis should be analyzed first and, if negative, SPRED1 testing should be considered in patients with café au lait macules with or without freckling and no other diagnostic features," write the researchers. (medscape.com)
  • Patients had more than 5 café au lait macules with or without freckling or a family history of neurofibromatosis. (medscape.com)
  • Of the 94 probands with familial café au lait macules with or without freckling and no other features, 73% had a neurofibromatosis type 1 mutation, and another 19% had a SPRED1 mutation. (medscape.com)
  • Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling. (nih.gov)
  • 2. The diagnostic and clinical significance of café-au-lait macules. (nih.gov)
  • 6. Predictive value of café au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1. (nih.gov)
  • 8. Studies on café au lait spots in neurofibromatosis and pigmented macules of nevus spilus. (nih.gov)
  • 14. A case of agminated lentiginosis with multiple café-au-lait macules. (nih.gov)
  • Constitutional heterozygous loss-of-function mutations in the SPRED1 gene cause a phenotype known as Legius syndrome, which consists of symptoms of multiple café-au-lait macules, axillary freckling, learning disabilities , and macrocephaly. (symptoma.com)
  • Café au lait macules are tan spots in different sizes and shapes. (brainandnervecenter.com)
  • Complete elimination of large café-au-lait birthmarks by the 510-nm pulsed dye laser. (medscape.com)
  • Mongolian Spots: These blue-gray birthmarks are most common in people with darker skin and often appear on the lower back and buttocks. (itechment.com)
  • For example, baby birthmarks that are red in colour are often caused when blood vessels are not formed properly or are overgrown, whereas brown or blue grey spots are related to pigmentation. (waterwipes.com)
  • Unlike other baby birthmarks, café-au-lait spots do not clear on their own and may be with us for life. (waterwipes.com)
  • a) Cafe`-au-lait birthmarks are caused by overgrowth of the cells and this creates pigment in the skin. (actforlibraries.org)
  • Birthmarks are benign spots or growths present on the skin at or shortly after birth. (sparshskindoctor.com)
  • Familial multiple cafe au lait spots, also known as Autosomal dominant multiple cafe au lait spots or Neurofibromatosis type 6, is a rare, cutaneous genetic disorder which is characterized by the hereditary cutaneous presence of several cafe-au-lait spots without any other symptoms of neurofibromatosis. (wikipedia.org)
  • described multiple families with cafe-au-lait spots and no association for neurofibromatosis in 1980. (wikipedia.org)
  • described 5 members from a 4-generation family, these members had the characteristic tell-tale sign of neurofibromatosis, multiple cafe au lait spots, however, testing of the gene usually involved in neurofibromatosis revealed it to be normal. (wikipedia.org)
  • Familial café au lait spots: a variant of neurofibromatosis type 1. (medscape.com)
  • De Schepper S, Boucneau J, Vander Haeghen Y, Messiaen L, Naeyaert JM, Lambert J. Cafe-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind? (medscape.com)
  • People with neurofibromatosis often have more than 6 light brown spots -- cafe-au-lait spots -- larger than 1.5 centimeters. (medlineplus.gov)
  • This is a picture of a giant cafe-au-lait spot on a person with neurofibromatosis. (medlineplus.gov)
  • While café au lait spots are relatively common and harmless, they can sometimes be an indication of an underlying medical condition such as neurofibromatosis (NF). (fik-kaffe.com)
  • Neurofibromatosis (NF) type I and II are the most common disorders related to café au lait spots. (fik-kaffe.com)
  • Some café au lait spots could indicate an underlying medical condition like neurofibromatosis type 1 (NF-1), so it's important to rule this out first. (fik-kaffe.com)
  • 7. Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1? (nih.gov)
  • 11. Cutaneous nerves in cafe au lait spots with white halos in infants with neurofibromatosis. (nih.gov)
  • 13. An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots and Freckling. (nih.gov)
  • 19. The myth of six café-au-lait spots in the peripheral form of neurofibromatosis. (nih.gov)
  • Brown cafe-au-lait brown spots of neurofibromatosis. (nsc.com.sg)
  • La NF1 es prodcida por mutaciones que inactivan el gen NF1 (GENES DE LA NEUROFIBROMATOSIS 1) en el cromosoma 17q. (bvsalud.org)
  • Existe solapamiento de las características clínicas con el SÍNDROME DE NOONAN en el síndrome denominado neurofibromatosis - síndrome de Noonan. (bvsalud.org)
  • SCIENTIFIC BACKGROUND Description Legius syndrome, historically known as Neurofibromatosis type 1-like syndrome (NFLS), is characterized by multiple café-au-lait spots with or without additional freckle -like spots in the axilla or groin. (symptoma.com)
  • It's wise to have your doctor evaluate the spots if they are any spots larger than the size of a quarter, this could be a sign of neurofibromatosis which is a genetic disorder caused by abnormal cell growth of the nerve tissue. (actforlibraries.org)
  • Special Series: Radiologic Images in Dermatology Neurofibromatosis type 1 ( von Recklinghausen or peripheral disease) is characterized by café-au-lait 1 Aug 2014 Neurofibromatosis type 1 is a relatively common inherited disorder. (web.app)
  • A 5-year-old girl was diagnosed with neurofibromatosis type 2 (NF-2) due to multiple neurofibromas, cafe-au-lait spots, and schwannomas of the brain. (kyobobook.co.kr)
  • The most common symptoms of NF are lisch nodules, cafe au lait spots, freckling in the armpit or groin area, and neurofibromas are noticeable once the child is born or may be more evident eventually. (transpedianews.com)
  • For more superficial pigmentation problems such as sunspots, solar lentigos, cafe-au-lait spots, freckles it may require the 532nm q-switched KTP. (thevictoriancosmeticinstitute.com.au)
  • Whether it is sun spots, age spots, freckles, sun damage, or melasma-skin pigmentation is a common issue faced by most of us. (sparshskindoctor.com)
  • Axillary freckling showing café au lait spots. (medscape.com)
  • There are a set of clinical criteria for the diagnosis that your dcotro should be aware of - includes features such as skin pigmentation spots called cafe au lait spots, axillary freckling, family history etc. (medhelp.org)
  • Multiple café-au-lait spots and macrocephaly are present with or without axillary or inguinal freckling. (symptoma.com)
  • Areas of abnormal pigmentation typically include pale tan or light brown discolorations (cafe-au-lait spots) on the skin of the trunk and other regions as well as freckling, particularly under the arms (axillary) and in the groin (inguinal) area. (brainandnervecenter.com)
  • Treatment of a cafe-au-lait macule with the erbium:YAG laser. (medscape.com)
  • Multiple irregular sized and shaped café au lait lesions. (medscape.com)
  • Café au lait lesions. (medscape.com)
  • The characteristic lesions are called cafe au lait spots - large, flat, light brown spots. (drgreene.com)
  • Cafe-au-lait spots can be a manifestation of some underlying disorders especially if there are six or more lesions greater than 1.5 cm in diameter. (nsc.com.sg)
  • Benoquin Cream 20% is not effective for the treatment of cafe-au-lait spots, pigmented nevi, malignant melanoma or pigmentation resulting from pigments other than melanin (e.g.: bile, silver, or artificial pigments). (nih.gov)
  • Skin : No Nevi, hemangiomas or cafe au lait spots. (nih.gov)
  • Sun exposure can make café au lait spots more noticeable over time due to increased pigmentation. (fik-kaffe.com)
  • 3- , 5 FA patients often have skeletal abnormalities (e.g., thumb or limb abnormalities) and abnormal skin pigmentation (e.g., hypopigmentation or café au lait spots). (ashpublications.org)
  • Age spots are the most common type of skin pigmentation issue and are a result of sun damage. (sparshskindoctor.com)
  • since Cafe Au Lait Marks if present more than 6 require further evaluation if accompanied by other symptoms. (fik-kaffe.com)
  • If Café Au Lait marks are found in excess of 6, is accompanied by other symptoms such as bone deformity or learning difficulties, neurological examination is needed to rule out rare or genetic syndromes. (fik-kaffe.com)
  • Additional symptoms associated with Turcot syndrome include small, coffee-colored spots on the skin (cafe-au-lait spots), the formation of multiple, benign fatty tumors (lipomas), and/or the development of a type of skin cancer known as basal cell carcinoma. (rarediseases.org)
  • CASE REPORT: We present a 10 months child, without a personal interest history, consulting by hypotonic extremities, cafe - au - lait spots and mild psychomotor difficult. (symptoma.com)
  • Few cases have been described in medical literature, although it is estimated that the presence of multiple cafe au lait spots without NF1 is rare (but not extremely rare) among the general population. (wikipedia.org)
  • However, multiple spots or larger than average spots may indicate underlying medical conditions. (fik-kaffe.com)
  • 1. Diagnostic outcome in children with multiple café au lait spots. (nih.gov)
  • Note the large paraspinal neurofibroma and multiple cafe-au-lait spots over the back. (web.app)
  • Café au lait spots, also known as CALMs, are a type of pigmented birthmark that can vary in size and color. (fik-kaffe.com)
  • Café au lait spots, also known as CALMs, are a type of birthmark that commonly appear on the skin. (fik-kaffe.com)
  • A café au lait spot is a flat, light brown birthmark typically found on the skin of newborns, but can also occur later in life. (fik-kaffe.com)
  • Pain level- Café-au-lait skin markings do not cause pain directly unless irritated by rubbing our scratching. (fik-kaffe.com)
  • Mongolian spots , flat patches of slate-blue or blue-green color that look like ink stains on the back, buttocks, or elsewhere on the skin, are found in more than half of Black, Native American, and Asian infants and less often in white babies. (kidshealth.org)
  • Instead, the doctor notices café-au-lait spots or lumps under the child's skin during a routine exam. (msdmanuals.com)
  • Sometimes mistaken for bruises due to their colour, blue-grey spots (also often called Mongolian Blue Spots) are commonly found on babies with darker skin and most frequently occur on the lower part of the body, from lower back to bottom and legs, and on arms. (waterwipes.com)
  • Melasma or chloasma is yet another type of hyperpigmentation characterized by spots that are very similar to age spots but cover a larger area on the skin. (sparshskindoctor.com)
  • b) Mongolian spots which are the bluish-gray flat patches are usually found on the buttocks or the lower part of the back. (actforlibraries.org)
  • These harmless spots almost always fade or disappear within a few years. (kidshealth.org)
  • The coffee-milk-colored spots (cafe-au-lait) may fade over time. (epainassist.com)
  • These spots will normally fade by school age of the child. (actforlibraries.org)
  • The cafe au lait spots tend to overly the areas of most bony involvement. (drgreene.com)
  • They're usually of no concern unless they're large or there are six or more spots on the body . (kidshealth.org)
  • Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. (medscape.com)
  • These spots can range in color from light brown to dark chocolate and are typically oval or rounded in shape. (fik-kaffe.com)
  • cafe-au-lait spots , light-brown spots that may deepen in color (or even first appear) as the child grows older. (kidshealth.org)
  • The descriptive café-au-lait spot is a common light brown spot or splotch that can be found anywhere on the body - and can come as one or in multiples. (waterwipes.com)
  • While they are harmless, many people wish to manage or treat their café au lait spots for cosmetic reasons. (fik-kaffe.com)
  • While sometimes imperfections can be beautiful, you also cannot deny that if not appropriately addressed, those tiny brown spots adorning your cheeks or nose can become a real problem! (sparshskindoctor.com)
  • Like your coffee, a café-au-lait spot can differ in size and colour and will be darker on darker-skinned babies. (waterwipes.com)
  • These spots are usually oval or circular in shape, with smooth edges and a well-defined border. (fik-kaffe.com)
  • My daughter is 5MO and she has these spots over her body. (babycenter.com)
  • The McCune-Albright spots are distinguished by the serrated borders (called "coast of Maine") and by their tendency to stop abruptly at the midline of the body. (drgreene.com)
  • I have a lot of the cafe au lait spots all over my body. (bthedifference.org)
  • 3.Faster Treatments - With an 18 mm spot size treatments are quick. (ipl-laser-machine.com)
  • 4.More Flexibility - The 755nm Alexandrite Laser also comes with an 8 mm spot size that allows more flexibility in the areas being treated, such as the nose and ears. (ipl-laser-machine.com)