Neurofibromatosis 1
Cafe-au-Lait Spots
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.
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Freckles7
- Pigmented lesions, like freckles, moles, and age spots, can make you feel self-conscious and mar an otherwise smooth complexion. (envisionlaserremoval.com)
- Age spots and freckles take just seconds, while severe cases of melasma and birthmarks may take several minutes to treat. (envisionlaserremoval.com)
- The KTP laser is effective in breaking up age spots, freckles, cafe-au-lait spots, hemangioma (vascular lesions or birthmarks), rosacea (chronic inflammation and redness of an area of the skin), telengectasia (broken blood vessels) and venous lake (vascular lesion commonly found on the lip or ear). (advanceddermatologypc.com)
- Copper bromide laser has been proven to be a gentle, yet effective laser treatment for benign pigmented lesions such as age spots, sun spots, freckles, rosacea, and melasma. (radium-aesthetics.com)
- Reduce appearance of common pigmentation conditions such as freckles, age spots, cafe-au-lait spots etc. (radium-aesthetics.com)
- Picosecond laser skin treatment is a medical beauty device for removing black spots and freckles, purifying and whitening the skin. (bvlaser.com)
- 1. Nevus of Ota, cafe-au-lait spots, zygomatic nevus, freckles, age spots and various stubborn pigmented lesions. (bvlaser.com)
Nevus1
- Laser treatments can help fade Nevus of Ota (discoloration around the eyes) and Nevus of Ito (discoloration distributed along the shoulder), as well as Mongolian spots along the lumbar-sacral area. (envisionlaserremoval.com)
Moles3
- Birthmarks include cafe-au-lait spots, moles, and Mongolian spots. (medlineplus.gov)
- Moles usually are small, round brown spots, but they sometimes can be larger and can be different colors. (oakbrookderm.com)
- Moles, Mongolian spots, and cafe-au-lait spots are all considered types of pigmented birthmarks. (dpyouhui.com)
Lesions8
- The size and number of café au lait skin lesions widely vary and are usually the earliest manifestations of neurofibromatosis . (medscape.com)
- The images below depict various café au lait lesions. (medscape.com)
- Multiple irregular sized and shaped café au lait lesions. (medscape.com)
- Café au lait lesions. (medscape.com)
- Now you can safely remove birthmarks whether they are brown spots or red vascular pigmentation lesions, all non-invasive, with little to no downtime and minimal pain. (bodybeautifullasermedi-spa.com)
- Hemangiomas, lipomas, hypopigmented lesions, and rarely cafe ΄ au lait spot have also been described. (symptoma.com)
- There were no other cutaneous manifestations, such as cafe - au - lait spots or hypo- or hyper-pigmentation lesions. (symptoma.com)
- In regards to her back, her skin is intact with no rashes, lesions, and/or no dimpling or hair spots. (mtsamples.com)
Birthmarks1
- Birthmarks are benign spots or growths present on the skin at or shortly after birth. (sparshskindoctor.com)
Neurofibromatosis8
- 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)
- Café au lait macules are observed in 95% of patients with neurofibromatosis type 1 (NF1), which is the most frequently occurring neurocutaneous syndrome. (medscape.com)
- 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)
- Someone who has many of these spots may have a genetic disorder called neurofibromatosis . (medlineplus.gov)
- Basal hyperpigmentation, proliferation of melanocytes in neurofibromatosis type 1 and LEOPARD syndrome, but no proliferation of melanocytes in sporadic café-au-lait macules. (dermacompass.net)
Macules10
- [ 3 ] Café au lait macules may be a marker for RASopathies, disorders related to RAS mutations. (medscape.com)
- A significant increase in melanocyte density is noted in the café au lait macules of patients with NF1 compared with patients who have isolated café au lait macules without NF1 involvement. (medscape.com)
- Also, an increase in stem cell factor cytokines is more frequently observed in NF1 café au lait macules than non-NF1 café au lait macules. (medscape.com)
- Café au lait macules associated with NF1 result from an autosomal dominant disorder with high penetrance and variability in the expression of clinical features. (medscape.com)
- [ 5 ] In childhood, solitary café au lait macules occur in 13% of whites and 27% of blacks. (medscape.com)
- Two or more café au lait macules were not observed in any of 4000 white newborns, although they were found in 8% of black newborns. (medscape.com)
- By the time the child is aged 2-3 years, café au lait macules are clearly visible. (medscape.com)
- The size and number of café au lait macules increase with patient age in patients with NF1. (medscape.com)
- No reports indicate that café au lait macules undergo malignant change. (medscape.com)
- Café au lait macules are benign and produce no mortality or morbidity, although the associated syndromes may have significant manifestations. (medscape.com)
Axillary2
- Axillary freckling showing café au lait spots. (medscape.com)
- General examination revealed multiple cafe-au-lait spots and axillary freckling. (neuroradiologycases.com)
Neurofibromas1
- The disease is associated with many symptoms, including soft lumps on and under the skin (subcutaneous neurofibromas), skin pigmentation (cafe au lait spots) and, in 20-50 percent of patients, tumors on the nerve sheaths (plexiform neurofibromas). (merck.com)
Mongolian3
- Mongolian spots are more common in people with darker skin. (medlineplus.gov)
- Mongolian spots (also called Mongolian blue spots) are usually bluish or bruised-looking. (medlineplus.gov)
- 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)
Skin10
- Tiny, flat, yellow or white spots on the nose and chin, which are caused by the collection of secretions in skin glands and will disappear within the first few weeks. (kidshealth.org)
- Excision Removal: CO2 laser resurfacing is done to treat sun damage, age spots, and any other hyperpigmentation on the skin. (losgatosdermatology.com)
- It's like a spot on your skin. (oakbrookderm.com)
- These types of spots have a gray-blue pigment, resembling a bruise, and are usually found on the backs or buttocks of babies with darker skin. (oakbrookderm.com)
- Before undergoing a laser procedure, you should have any concerning spots checked out by a dermatologist or other medical professional to ensure they aren't something serious, like melanoma or another form of skin cancer. (envisionlaserremoval.com)
- 3. They develop disordered skin pigmentation and "cafe-au-lait" spots. (nbharwani.com)
- 4. The tumours may cause bumps under the skin, coloured spots, skeletal problems, pressure on spinal nerve roots, and other neurological problems. (nbharwani.com)
- Skin Brightening Laser will reduce uneven skin tone and hyperpigmentation while the RuVY Touch Pigment Laser targets stubborn dark spots. (radium-aesthetics.com)
- Instead, the doctor notices café-au-lait spots or lumps under the child's skin during a routine exam. (msdmanuals.com)
- Picosecond laser freckle removal is independent, it does not mean that spots will no longer appear in the future, if the body is in a state of 'imbalance' for a long time, do not pay attention to sun protection and skin care, spots formed by endocrine factors, do not pay attention to maintenance If it is, there is a possibility of growing it again. (bvlaser.com)
Brown spots1
- cafe-au-lait spots , light-brown spots that may deepen in color (or even first appear) as the child grows older. (kidshealth.org)
Pigmentation1
- When dark spots have developed, prolonged exposure to the sun may cause these pigments (such as age spots, melanoma, and post-inflammatory pigmentation) to become even darker. (radium-aesthetics.com)
Multiple2
- 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)
- On the abdomen were multiple scattered café-au-lait patches. (medscape.com)
Coffeehouse1
- Cafe Envie (1241 Decatur St.) is an airy coffeehouse with comfortable sidewalk seating, popular with the locals. (frenchquarter.com)
Diagnosis1
- Café au lait spots that confirm the diagnosis of NF1 occur at an estimated frequency of 1 in 3500 persons. (medscape.com)
Growths1
- Your child's doctor will exam the growths and spots. (msdmanuals.com)
Fade2
- These harmless spots almost always fade or disappear within a few years. (kidshealth.org)
- These spots may fade as you get older, but they probably won't go away completely. (oakbrookderm.com)
Casual2
- At the casual Cafe Maspero , the always-open enormous windows provide a great view of the busy corner, and the heaping seafood platters won't break the bank. (frenchquarter.com)
- Whether you're updating your corporate breakroom, cafeteria, or creating a casual meeting spot, the Cafe au Lait Oversized Stools and 30" Round Bar Height Table Set helps create a rich atmosphere that lends itself to warm interaction. (nationalbusinessfurniture.com)
Faint1
- A Wood lamp may improve the ability to visualize these faint spots. (medscape.com)
Coffee3
- Cafe-au-lait spots are light tan, the color of coffee with milk. (medlineplus.gov)
- 2. Café au lait Café au lait ('coffee with milk') is a French coffee drin. (jisho.org)
- Cafe-au-lait is French for "coffee with milk," which is the color of these spots. (oakbrookderm.com)
Present1
- Typically, café au lait spots are present at birth, although they may be difficult to appreciate. (medscape.com)
Common1
- Cafe-au-lait spots are common at or after birth. (medlineplus.gov)
Content1
- Café au lait spots are caused by an increase in melanin content, often with the presence of giant melanosomes. (medscape.com)
Large1
- There are so many excellent restaurants to choose from as your business lunch destination, at every price point, but few stand out for the quality of their food, a historic setting, great prix fixe lunch specials, and the ability to accommodate large groups. (frenchquarter.com)
Period1
- In the newborn period, solitary café au lait spots may occur in 0.3% of whites, 3% of Hispanics, and in 18% of blacks. (medscape.com)
Black1
- Café au lait spots are more frequently observed in black children. (medscape.com)
Patients1
- These spots may also be observed in patients without NF1. (medscape.com)