A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait.

Piecing together the puzzle of cutaneous mosaicism. (1/13)

Autosomal dominant disorders of the skin may present in a pattern following the lines of embryologic development of the ectoderm. In these cases, the surrounding skin is normal, and molecular studies have shown that the causative mutation is confined to the affected ectodermal tissue (type 1 mosaicism). Rarely, an individual shows skin lesions that follow the pattern of type 1 mosaicism, but the rest of the skin shows a milder form of the disorder (type 2 mosaicism). A new study provides the molecular basis for type 2 mosaicism.  (+info)

Focal dermal hypoplasia (Goltz syndrome). (2/13)

A 7-year-old girl born of non-consanguineous marriage was evaluated for facial dysmorphism. She had multiple skeletal anomalies like hypoplasia of the right mandible, narrow nasal bridge with broad tip and unilateral notching of the right ala nasi, concomitant squint and low set ears. She also had generalized hypopigmented, atrophic linear macules, multiple papillomas, fat herniations, umbilical hernia, hypoplastic nails, cicatricial alopecia, mild mental retardation, 'lobster-claw' hand and osteopathia striata of long bones, pointing to a diagnosis of Goltz syndrome. The unusual features noted were absence of the left first rib and aortic regurgitation.  (+info)

Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12. (3/13)

We report on a four-generation family with localized subepidermal telangiectasias following Blaschko's lines (angioma serpiginosum). The vascular streaks are present at birth and progress slowly thereafter. In several family members papillomatosis of the entire oesophagus was found to be part of the condition. Mild nail and hair dystrophy added to the resemblance of Goltz-Gorlin syndrome (focal dermal hypoplasia), suggesting that the present condition could be a mild variant. All affected family members are females, there is no increased miscarriage rate, and X-inactivation in affected females is highly skewed, compatible with X-linked dominant inheritance with very early in utero lethality in males. In the family, 11 informative meioses were available to study the segregation of X-chromosome markers. Significant linkage (LOD score 3.31) was found to a region flanked by markers DXS8026 and DXS106 (44-67 Mb from Xpter) that includes the centromere.  (+info)

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. (4/13)

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A rare multisystem disorder: Goltz syndrome - case report and brief overview. (5/13)

Focal dermal hypoplasia, also known popularly as Goltz syndrome, is a multisystem disorder characterized by linear or reticulate atrophic macules with fat herniation that is associated with various cutaneous and extracutaneous anomalies. We present a case of a patient with Goltz syndrome who exhibits a classical presentation, associated with exopthalmos major and malrotation of the gut. A brief overview of the syndrome is also presented in an attempt to incorporate all associated anomalies reported so far.  (+info)

Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report. (6/13)

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Do you know this syndrome? (7/13)

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Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome. (8/13)

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Focal dermal hypoplasia, also known as Goltz-Gorlin syndrome, is a rare genetic disorder characterized by skin abnormalities and the development of various types of tumors. The condition primarily affects the skin, hair, eyes, teeth, and skeletal system. It is caused by mutations in the PORCN gene, which plays a crucial role in the WNT signaling pathway, essential for normal embryonic development.

The medical definition of focal dermal hypoplasia includes the following key features:

1. Skin abnormalities: The most prominent feature is areas of atrophic skin (hypoplasia) that are often linear or patchy in distribution, typically found on the trunk and extremities. These areas may be prone to blistering, scarring, and pigmentation changes.
2. Fat herniations (lipodermoids): Subcutaneous fat may protrude through the affected skin, forming visible nodules or cysts.
3. Telangiectasias: Dilated blood vessels near the surface of the skin, resulting in red spots or lines.
4. Skeletal abnormalities: These can include limb defects, such as missing fingers or toes, and spinal deformities, like scoliosis or vertebral fusion.
5. Eye abnormalities: Common ocular findings include microphthalmia (small eyes), aniridia (absence of the iris), strabismus (crossed eyes), and coloboma (a gap in a structure of the eye).
6. Dental anomalies: Abnormal tooth development, such as missing or malformed teeth, may occur.
7. Nail dystrophy: Abnormal growth or appearance of fingernails and toenails.
8. Hair abnormalities: Thin hair or areas of hair loss (alopecia) can be present.
9. Developmental delays and intellectual disability: Some individuals with focal dermal hypoplasia may have learning difficulties, although cognitive function varies widely among affected individuals.

Focal dermal hypoplasia primarily affects females, as the PORCN gene is located on the X chromosome. However, rare cases of affected males have been reported due to genetic mechanisms such as Klinefelter syndrome (XXY) or mosaicism.

... has been associated with PORCN gene mutations on the X chromosome. 90% of the individuals who are ... Focal dermal hypoplasia is a form of ectodermal dysplasia. It is a multisystem disorder characterized primarily by skin ... synd/1370 at Who Named It? R. W. Goltz, W. C. Peterson, R. J. Gorlin, H. G. Ravits: Focal dermal hypoplasia. Archives of ... ISBN 978-0-7216-2921-6. Goltz RW, Henderson RR, Hitch JM, Ott JE (2008). "Focal dermal hypoplasia syndrome. A review of the ...
Focal dermal hypoplasia is associated with PORCN. Ellis-van Creveld syndrome is associated with EVC. Palmoplantar ectodermal ...
Mutations in this gene are associated with focal dermal hypoplasia. Mutations in PORCN are associated to Goltz-Gorlin syndrome ... July 2007). "Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia". Nat. Genet. 39 ...
The differential diagnosis of Setleis syndrome includes X-linked focal dermal hypoplasia, or Goltz syndrome; a syndrome of ... "Orphanet: Focal facial dermal dysplasia type III". www.orpha.net. Retrieved 27 April 2019. Rapini, Ronald P.; Bolognia, Jean L ... focal dermal hypoplasia, morning glory anomaly, and polymicrogyria; incontinentia pigmenti; oculocerebrocutaneous syndrome; ...
KLKB1 Focal cortical dysplasia, Taylor balloon cell type; 607341; TSC1 Focal dermal hypoplasia; 305600; PORCN Folate ... focal segmental, 1; 603278; ACTN4 Glomerulosclerosis, focal segmental, 2; 603965; TRPC6 Glomerulosclerosis, focal segmental, 3 ... PAX2 Optic nerve hypoplasia and abnormalities of the central nervous system; 206900; SOX2 Optic nerve hypoplasia; 165550; PAX6 ... VRK1 Pontocerebellar hypoplasia type 2A; 277470; TSEN54 Pontocerebellar hypoplasia type 2B; 612389; TSEN2 Pontocerebellar ...
Cases of skin disease that may be inherited in this kind of mode include incontinentia pigmenti, focal dermal hypoplasia and so ...
Aicardi syndrome Encephalocraniocutaneous lipomatosis Focal dermal hypoplasia Oculo-auriculo-vertebral spectrum This is a rare ...
Robinson's and focal dermal hypoplasia. Three syndromes which classically have signs of anodontia are oculomandibulodyscephaly ...
Fibrodysplasia ossificans progressiva Focal dermal hypoplasia (Goltz syndrome) Follicular atrophoderma Franceschetti-Klein ... Focal palmoplantar and gingival keratosis Focal palmoplantar keratoderma with oral mucosal hyperkeratosis (focal epidermolytic ... congenital dermal melanocytosis, dermal melanocytosis) Mulberry molar Nager acrofacial dysostosis Nasal glioma (brain-like ... Dermal dendrocyte hamartoma Dermatofibroma (benign fibrous histiocytoma, dermal dendrocytoma, fibrous dermatofibroma, fibrous ...
... focal dermal hypoplasia MeSH C05.116.099.370.535 - Klippel-Feil syndrome MeSH C05.116.099.370.652 - orofaciodigital syndromes ...
Chemotherapy during tooth development Marshall syndrome Rieger syndrome Focal dermal hypoplasia Silver-Russell syndrome ... Localized microdontia is also termed focal, or pseudo-microdontia. A single tooth is smaller than normal. Localized microdontia ...
... focal dermal hypoplasia MeSH C16.131.260.800.300 - fragile X syndrome MeSH C16.131.260.800.340 - gonadal dysgenesis, 46,xy MeSH ... focal dermal hypoplasia MeSH C16.320.180.800.300 - fragile X syndrome MeSH C16.320.180.800.340 - gonadal dysgenesis, 46,xy MeSH ... focal dermal hypoplasia MeSH C16.320.322.201 - glycogen storage disease type IIb MeSH C16.320.322.217 - glycogen storage ... focal dermal hypoplasia MeSH C16.131.831.350.712 - neurocutaneous syndromes MeSH C16.131.831.428 - Ehlers-Danlos syndrome MeSH ...
... focal dermal hypoplasia, as well as skeletal abnormalities "Ocular albinism: MedlinePlus Genetics". medlineplus.gov. Retrieved ...
... focal dermal hypoplasia MeSH C17.800.804.350.712 - neurocutaneous syndromes MeSH C17.800.804.428 - Ehlers-Danlos syndrome MeSH ... focal dermal hypoplasia MeSH C17.800.827.250.712 - neurocutaneous syndromes MeSH C17.800.827.260 - Ehlers-Danlos syndrome MeSH ...
... topic of genetic signaling in development and disease Gorlin sign Nevoid basal cell carcinoma syndrome Focal dermal hypoplasia ...
... complementation group S Focal facial dermal dysplasia type III Fontaine progeroid syndrome Hereditary spastic paraplegia 49 ... and impaired glucose metabolism 1 Muenke syndrome Nicolaides-Baraitser syndrome Pontocerebellar hypoplasia, IIA 17 Rubinstein- ... Intellectual disability, autosomal dominant 14, 42, and 52 KBG syndrome Lissencephaly 7 with cerebellar hypoplasia Megalocornea ...
Focal agyria pachygyria Focal alopecia congenital megalencephaly Focal dermal hypoplasia Focal dystonia Focal facial dermal ... aplasia complex brachydactyly Fibular aplasia ectrodactyly Fibular hypoplasia femoral bowing oligodactyly Fibular hypoplasia ... dysplasia Focal or multifocal malformations in neuronal migration Foix-Chavany-Marie syndrome Foix-Alajouanine syndrome ...
Cerebellar hypoplasia is an incomplete development of the cerebellum. The most common cause in dogs is an in utero infection ... Dermal fragility syndrome, also known as Ehlers-Danlos-like syndrome, is a rare condition in dogs characterized by increased ... Rage syndrome is a rare inherited seizure disorder characterized by explosive aggression and focal neurologic symptoms. It is ...
Focal dermal hypoplasia has been associated with PORCN gene mutations on the X chromosome. 90% of the individuals who are ... Focal dermal hypoplasia is a form of ectodermal dysplasia. It is a multisystem disorder characterized primarily by skin ... synd/1370 at Who Named It? R. W. Goltz, W. C. Peterson, R. J. Gorlin, H. G. Ravits: Focal dermal hypoplasia. Archives of ... ISBN 978-0-7216-2921-6. Goltz RW, Henderson RR, Hitch JM, Ott JE (2008). "Focal dermal hypoplasia syndrome. A review of the ...
Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. Explore symptoms, ... medlineplus.gov/genetics/condition/focal-dermal-hypoplasia/ Focal dermal hypoplasia. ... People with focal dermal hypoplasia have skin abnormalities present from birth, such as streaks of very thin skin (dermal ... Most cases of focal dermal hypoplasia in females result from new mutations in the PORCN gene and occur in people with no ...
Focal dermal hypoplasia (FDH) is an uncommon genetic disorder characterized by distinctive skin abnormalities and a wide ... encoded search term (Focal Dermal Hypoplasia Syndrome) and Focal Dermal Hypoplasia Syndrome What to Read Next on Medscape ... Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T,C:p.F417S) and ... Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. J Dermatol Sci. 2008 Jan. 49(1):39- ...
Focal dermal hypoplasia (FDH) is an uncommon genetic disorder characterized by distinctive skin abnormalities and a wide ... encoded search term (Focal Dermal Hypoplasia Syndrome) and Focal Dermal Hypoplasia Syndrome What to Read Next on Medscape ... Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T,C:p.F417S) and ... Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. J Dermatol Sci. 2008 Jan. 49(1):39- ...
Focal dermal hypoplasia (FDH) is an uncommon genetic disorder characterized by distinctive skin abnormalities and a wide ... encoded search term (Focal Dermal Hypoplasia Syndrome) and Focal Dermal Hypoplasia Syndrome What to Read Next on Medscape ... Focal Dermal Hypoplasia Syndrome. Updated: Feb 19, 2016 * Author: Leslie Castelo-Soccio, MD, PhD; Chief Editor: Dirk M Elston, ... Focal dermal hypoplasia is also known as Goltz syndrome or Goltz-Gorlin syndrome. [1, 2, 3, 4, 5] ...
Focal dermal hypoplasia (FDH) is an uncommon genetic disorder characterized by distinctive skin abnormalities and a wide ... encoded search term (Focal Dermal Hypoplasia Syndrome) and Focal Dermal Hypoplasia Syndrome What to Read Next on Medscape ... Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T,C:p.F417S) and ... Focal Dermal Hypoplasia Syndrome Clinical Presentation. Updated: Feb 19, 2016 * Author: Leslie Castelo-Soccio, MD, PhD; Chief ...
Dermal Hypoplasia, Focal; Goltz Syndrome; Goltz Gorlin Syndrome. On-line free medical diagnosis assistant. Ranked list of ... Focal Dermal Hypoplasia; Dermal Hypoplasia, Focal; Goltz Syndrome; Goltz Gorlin Syndrome. Fast. Hierarchical. ...
Focal Dermal Hypoplasia (Focal dermal hypoplasia) - Gen PORCN. ... Focal Dermal Hypoplasia (Focal dermal hypoplasia) - Gen PORCN. ... Most focal dermal hypoplasia cases in women are due to new mutations in the gene PORCN and occur in people with no history of ... Focal Dermal Hypoplasia is inherited as a dominant X - linked pattern In women, a mutation in one of the two copies of the gene ... When the focal dermal hypoplasia occurs in men, it is always due to a new mutation in this gene that is not inherited. Only ...
Focal Dermal Hypoplasia. Lee T, Lin MY, Lin Z. Lee T, et al. Among authors: lin my. JAMA Dermatol. 2023 Sep 1;159(9):998-999. ...
Focal dermal hypoplasia: a case report and literature review. Murakami C, de Oliveira Lira Ortega A, Guimarães AS, Gonçalves- ...
focal dermal hypoplasia Focal Facial Dermal Dysplasia + Freire-Maia Odontotrichomelic Syndrome gastroschisis + ...
Wnt signaling in focal dermal hypoplasia. Nat. Genet.. 39. ,. 820. -821.. Parr, B. A., Shea, M. J., Vassileva, G. and McMahon, ... Ventral dermal progenitors in the flank mesenchyme express En1and contribute extensively to ventral dermal cells. (A-D) In ... Ventral dermal progenitors in the flank mesenchyme express En1and contribute extensively to ventral dermal cells. (A-D) In ... The survival of early dermal progenitors requires β-catenin. To determine the function of Wnt signaling in mouse ventral dermal ...
Next by Author: DIAG: markers, chromosome 4, focal dermal hypoplasia *Prev by thread: LITE: GENOMICS Contents, Volume 27, ...
... such as in lipodystrophy and focal dermal hypoplasia, leads to alopecia.26,27 Dermal adipocytes are organized in small clusters ... Focal dermal hypoplasia syndrome. An update. Arch Dermatol. 1992;128(8):1108-1111. ... Diseases associated with defects in adipocyte homeostasis, such as lipodystrophy and focal dermal hypoplasia, lead to alopecia ... Assembling composite dermal papilla spheres with adipose-derived stem cells to enhance hair follicle induction. Sci Rep. 2016;6 ...
14 Jun-07:50 GMT) DIAG: markers, chromosome 4, focal dermal hypoplasia *(15 Jun-06:37 GMT) DIAG: 3 messages/replies Frank S. ... 02 Jun-08:22 GMT) DIAG: focal dermal hypoplasia-cell line/ comment on "HIV/mosquito" *(06 Jun-08:15 GMT) DIAG: HTLV I-II ...
... focal alopecia, glaucoma, ungueal hypoplasia, and limb asymmetry [118, 121]. Phakomatosis spilorosea involves nevus spilus ( ... Mongolian spots and dermal melanocytosis are derived from aberrant migration of neural crest cells [99, 104]. This theory is ... C. F. Parsa, "Focal venous hypertension as a pathophysiologic mechanism for tissue hypertrophy, port-wine stains, the Sturge- ... Phakomatosis cesioflammea features dermal melanocytosis (blue spot) and nevus flammeus, which can be associated with nevus ...
Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.,NCI: A ...
Focal Dermal Hypoplasia. Narrow nasal bridge, Delayed eruption of teeth, Cleft ala nasi, Broad nasal tip, Cryptorchidism, .... ... Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development. ... Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Short nose. ORPHA:1529. ... Kyphoscoliosis, Short neck, Cryptorchidism, Depressed nasal ridge, Hypoplasia of the ovary, Hypos.... OMIM:151100. ...
Beganovic N, Lommen EJ (1977) A case of focal dermal hypoplasia (Goltz syndrome) with some new aspects. Acta Paediatr Scand 66: ...
Using fibroblasts from patients with a rare genetic defect called Focal Dermal Hypoplasia (FDH), we were able to demonstrate ...
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007;39:836-8. ... Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet. 2007;39:833-5. ... and PORCN in focal dermal hypoplasia (Goltz syndrome) [46, 47], suggesting that the changes that we observe in relation to ...
Focal dermal hypoplasia. A nine-year follow-up study. Gottlieb, S K; Fisher, B K; Violin, G A. ...
Focal Dermal Hypoplasia Entry term(s). Dermal Hypoplasia, Focal Dermal Hypoplasias, Focal Focal Dermal Hypoplasias Goltz Gorlin ... Dermal Hypoplasia, Focal. Dermal Hypoplasias, Focal. Focal Dermal Hypoplasias. Goltz Gorlin Syndrome. Goltz Syndrome. Goltzs ... Hypoplasia, Focal Dermal Hypoplasias, Focal Dermal Syndrome, Goltz Syndrome, Goltz Gorlin Syndrome, Goltzs Syndrome, Goltz- ... Hypoplasia, Focal Dermal. Hypoplasias, Focal Dermal. Syndrome, Goltz. Syndrome, Goltz Gorlin. Syndrome, Goltzs. Syndrome, ...
Segmental elastic nevus with ipsilateral focal dermal hypoplasia. Milano A. pp. 240 ...
Focal Dermal Hypoplasia Whats New Last Posted: Jan 01, 2011 * Focal dermal hypoplasia From NCATS Genetic and Rare Diseases ...
Focal dermal hypoplasia. * Laminopathies. * Restrictive dermopathy. * Werner syndrome. * Stiff skin syndrome. * Winchester ...
Focal dermal hypoplasia. Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, ... Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. Midface hypoplasia, hearing impairment, ... genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the ... dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital ...
focal dermal hypoplasia. *focal epilepsies with speech and language disorders, see epilepsy-aphasia spectrum ... focal epilepsy with speech disorder and with or without mental retardation, see epilepsy-aphasia spectrum ... focal hand dystonia, see task-specific focal dystonia. *focal task-specific dystonia, see task-specific focal dystonia ...
focal dermal hypoplasia DOID:2120 * Kennedy\s disease DOID:0060161 * mucopolysaccharidosis DOID:12798 ...
Focal dermal hypoplasia. Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, ... Clavicular hypoplasia can result in narrow, sloping shoulders that can be opposed at the midline. Moderate short stature may be ... Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. ... Clinical features of achondrogenesis type 1B (ACG1B) include extremely short limbs with short fingers and toes, hypoplasia of ...
  • The differential diagnosis of focal dermal hypoplasia (Goltz) syndrome includes autosomal recessive Setleis syndrome due to TWIST2 gene mutations. (wikipedia.org)
  • Focal dermal hypoplasia syndrome. (wikipedia.org)
  • The eponyms of focal dermal hypoplasia should not to be confused with Gorlin syndrome or Gorlin-Goltz syndrome, which is the nevoid basal cell carcinoma syndrome . (medscape.com)
  • Focal dermal hypoplasia is also known as Goltz syndrome or Goltz-Gorlin syndrome. (medscape.com)
  • Beganovic N, Lommen EJ (1977) A case of focal dermal hypoplasia (Goltz syndrome) with some new aspects. (yale.edu)
  • Goltz syndrome (focal dermal hypoplasia), a very rare syndrome that predominates in girls, is characterized by various ectodermal and mesodermal abnormalities. (tripod.com)
  • Mild nail and hair dystrophy added to the resemblance of Goltz-Gorlin syndrome (focal dermal hypoplasia), suggesting that the present condition could be a mild variant. (qxmd.com)
  • It may be an isolated anomaly or associated with chromosomal or genetic disorders (eg, trisomy 21,13,18, Silver syndrome, Prader-Willi syndrome, or focal dermal hypoplasia). (neonatologybook.com)
  • Septo-optic dysplasia (SOD) , also known as de Morsier syndrome , is a condition characterized by optic nerve hypoplasia and absence of the septum pellucidum and, in two-thirds of patients hypothalamic-pituitary dysfunction . (radiopaedia.org)
  • Mutations in the PORCN gene cause focal dermal hypoplasia. (medlineplus.gov)
  • People with focal dermal hypoplasia have skin abnormalities present from birth, such as streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent (cutis aplasia), small clusters of veins on the surface of the skin (telangiectases), and streaks of slightly darker or lighter skin. (medlineplus.gov)
  • Skin abnormalities may include dermal hypoplasia, fat nodules yellowish-pink color under the skin, aplasia cutis, telangiectasias, stripes slightly darker or lighter and skin papillomas. (ivami.com)
  • Focal dermal hypoplasia is a form of ectodermal dysplasia. (wikipedia.org)
  • Focal dermal hypoplasia has been associated with PORCN gene mutations on the X chromosome. (wikipedia.org)
  • The focal dermal hypoplasia (FDH) genetic defect has been associated with at least 80 different mutations in the PORCN gene of the X chromosome (Xp11.23). (medscape.com)
  • Studies indicate that focal dermal hypoplasia (FDH) is usually caused by mutations of the PORCN gene, mapped to locus Xp11.23. (medscape.com)
  • Although biochemical functions of the human PORCN gene are not well characterized, Wnt signaling may be involved in the phenotypic expression of focal dermal hypoplasia where defective/deficient Wnt signaling could affect cell fate or result in failure of a progenitor cell line to expand. (medscape.com)
  • They have identified at least 29 mutations in the gene responsible PORCN focal dermal hypoplasia. (ivami.com)
  • A male may be born with focal dermal hypoplasia if a gene mutation has PORCN only in some cells (mosaicism). (ivami.com)
  • Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita. (linkedlifedata.com)
  • One instance of large aplasia cutis congenita associated with exposed neurological structures showed surgical success with an acellular dermal matrix/skin graft construct to promote soft and bony tissue regeneration. (medscape.com)
  • The main gastrointestinal alteration that occurs in people with focal dermal hypoplasia omphalocele, which causes abdominal organs protrude through the navel. (ivami.com)
  • Eye abnormalities are common in individuals with focal dermal hypoplasia, including small eyes ( microphthalmia ), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. (medlineplus.gov)
  • Moreover, eye abnormalities are common in people with focal dermal hypoplasia, including microphthalmia, Anophthalmia, problems with the tear ducts and incomplete development of the retina or optic nerve. (ivami.com)
  • About half of individuals with focal dermal hypoplasia have abnormalities of their teeth, especially the hard, white material that forms the protective outer layer of each tooth (enamel). (medlineplus.gov)
  • The signs and symptoms of focal dermal hypoplasia vary widely, although almost all affected individuals have skin abnormalities. (medlineplus.gov)
  • Many individuals with focal dermal hypoplasia have abnormalities in hands and feet including oligodactyly, syndactyly, ectrodactilia and striated osteopathy. (ivami.com)
  • Moreover, about half of individuals with focal dermal hypoplasia have dental abnormalities, especially enamel. (ivami.com)
  • Segmental elastic nevus with ipsilateral focal dermal hypoplasia. (ejpd.com)
  • Focal congenital lipoatrophy: minimal growth hemangioma or malformation? (ejpd.com)
  • The severity of defects in focal dermal hypoplasia is variable, and this variability is due to random X-chromosome inactivation (lyonization) within cells. (medscape.com)
  • Diseases associated with defects in adipocyte homeostasis, such as lipodystrophy and focal dermal hypoplasia, lead to alopecia. (jcadonline.com)
  • Focal Dermal Hypoplasia is inherited as a dominant X - linked pattern In women, a mutation in one of the two copies of the gene in each cell is sufficient to express the disease. (ivami.com)
  • Focal dermal hypoplasia (FDH) is an uncommon genetic disorder affecting tissues of ectodermal and mesodermal origin. (medscape.com)
  • Focal dermal hypoplasia (FDH) is an uncommon disorder. (medscape.com)
  • Focal dermal hypoplasia is an uncommon but not rare disorder. (medscape.com)
  • It is believed that the distribution of active and inactive X chromosomes may play a role in determining the severity of the focal dermal hypoplasia in women. (ivami.com)
  • Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. (medlineplus.gov)
  • In mild cases, focal dermal hypoplasia involves only limited, sometimes unilateral, areas of skin. (medscape.com)
  • Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment , branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. (nih.gov)
  • X-rays can show streaks of altered bone density, called osteopathia striata, that do not cause any symptoms in people with focal dermal hypoplasia. (medlineplus.gov)
  • A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. (bvsalud.org)
  • Despite the importance of the dermis in the structural and functional integrity of the skin, genetic analysis of dermal development in different parts of the embryo is incomplete. (biologists.com)
  • The signaling requirements for ventral dermal cell development have not been established in either the chick or the mammalian embryo. (biologists.com)
  • [ 4 ] The name focal dermal hypoplasia (FDH) derives from the characteristic skin changes. (medscape.com)
  • Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. (nih.gov)
  • In this study, we demonstrate that Wnt/β-catenin signaling is necessary for the survival of early ventral dermal progenitors. (biologists.com)
  • Consistent with the different origins of dorsal and ventral dermal cells, our results demonstrate both conserved and divergent roles ofβ-catenin/Wnt signaling in dermal development. (biologists.com)
  • Using fibroblasts from patients with a rare genetic defect called Focal Dermal Hypoplasia (FDH), we were able to demonstrate that Wnt signaling is required during the process of reprogramming. (ca.gov)
  • Focal dermal hypoplasia appears to be a rare condition, although its exact prevalence is unknown. (medlineplus.gov)
  • [ 7 ] Focal dermal hypoplasia is identified as entry #305600 in the Online Mendelian Inheritance of Man database. (medscape.com)
  • Focal dermal hypoplasia is present at birth but may evolve thereafter and, in mildly affected individuals, may be recognized only later in life. (medscape.com)
  • Focal dermal hypoplasia: a case report and literature review. (nih.gov)
  • this feature is unique to focal dermal hypoplasia. (medscape.com)
  • People with focal dermal hypoplasia may have distinctive facial features. (medlineplus.gov)