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)
(+info)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)
(+info)Do you know this syndrome? (7/13)
(+info)Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome. (8/13)
(+info)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.
Focal dermal hypoplasia
Ectodermal dysplasia
PORCN
Setleis syndrome
List of OMIM disorder codes
Genodermatosis
Oculocerebrocutaneous syndrome
Anodontia
List of skin conditions
List of MeSH codes (C05)
Microdontia
List of MeSH codes (C16)
Ocular albinism late onset sensorineural deafness
List of MeSH codes (C17)
Robert J. Gorlin
Low anterior hairline
List of diseases (F)
List of dog diseases
Focal dermal hypoplasia - Wikipedia
Focal dermal hypoplasia: MedlinePlus Genetics
Focal Dermal Hypoplasia Syndrome: Background, Pathophysiology, Etiology
Focal Dermal Hypoplasia Syndrome: Background, Pathophysiology, Etiology
Focal Dermal Hypoplasia Syndrome: Background, Pathophysiology, Epidemiology
Focal Dermal Hypoplasia Syndrome Clinical Presentation: History, Physical, Causes
Focal Dermal Hypoplasia; Dermal Hypoplasia, Focal; Goltz Syndrome; Goltz Gorlin Syndrome
Genetic Testing - focal dermal hypoplasia (Focal dermal hypoplasia) - Gen PORCN. - IVAMI
Lin MY[au] - Search Results - PubMed
Guimarães AS - Search Results - PubMed
palmoplantar keratoderma and congenital alopecia 1 - Ontology Browser - Rat Genome Database
β-Catenin has sequential roles in the survival and specification of ventral dermis | Development | The Company of Biologists
HUM-MOLGEN archive: DIAG: HTLV I-II, MspI probe
Stromal Vascular Fraction and its Role in the Management of Alopecia: A Review | JCAD | The Journal of Clinical and Aesthetic...
Author index of HUM-MOLGEN postings
Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An...
CONCEPT Ectodermal Dysplasia
Trpm6 Mouse Gene Details | transient receptor potential cation channel, subfamily M, member 6 | International Mouse Phenotyping...
ModelDB: Citation Relationship
Year 4 - CIRM
The aquaglyceroporin AQP9 contributes to the sex-specific effects of in utero arsenic exposure on placental gene expression |...
Pesquisa | BVS Odontologia
DeCS
Vol. 29 No. 4 (2019) | European Journal of Pediatric Dermatology
Specific PHGKB|Rare Diseases PHGKB|PHGKB
PALLER AND MANCINI HURWITZ CLINICAL PEDIATRIC DERMATOLOGY 6TH EDITION PDF FREE DOWNLOAD: - Medical Students Corner
"Mixed hearing impairment"[Clinical Features] OR 102336[uid] - MedGen -...
herenciageneticayenfermedad: Health Conditions - Genetics Home Reference: F | Published: January 24, 2017
Bio2Vec
"Short ribs"[Clinical Features] OR 98094[uid] - MedGen -...
Syndrome9
- 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)
Cause focal dermal hypoplasia1
- Mutations in the PORCN gene cause focal dermal hypoplasia. (medlineplus.gov)
Yellowish-pink2
- 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)
Ectodermal dysplasia1
- Focal dermal hypoplasia is a form of ectodermal dysplasia. (wikipedia.org)
PORCN6
- 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)
Aplasia cutis2
- 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)
Protrude through the navel1
- The main gastrointestinal alteration that occurs in people with focal dermal hypoplasia omphalocele, which causes abdominal organs protrude through the navel. (ivami.com)
Microphthalmia2
- 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)
Abnormalities4
- 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)
Nevus1
- Segmental elastic nevus with ipsilateral focal dermal hypoplasia. (ejpd.com)
CONGENITAL1
- Focal congenital lipoatrophy: minimal growth hemangioma or malformation? (ejpd.com)
Defects2
- 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)
Gene1
- 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)
Uncommon3
- 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)
Severity1
- 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)
Genetic disorder1
- Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. (medlineplus.gov)
Mild2
- 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)
Symptoms1
- 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)
Anomalies1
- A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. (bvsalud.org)
Embryo2
- 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)
Skin2
- [ 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)
Demonstrate3
- 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)
Rare1
- Focal dermal hypoplasia appears to be a rare condition, although its exact prevalence is unknown. (medlineplus.gov)
Entry1
- [ 7 ] Focal dermal hypoplasia is identified as entry #305600 in the Online Mendelian Inheritance of Man database. (medscape.com)
Present1
- 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)
Case1
- Focal dermal hypoplasia: a case report and literature review. (nih.gov)
Unique1
- this feature is unique to focal dermal hypoplasia. (medscape.com)
People1
- People with focal dermal hypoplasia may have distinctive facial features. (medlineplus.gov)