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PORCN gene mutations and the protean nature of focal dermal hypoplasia
British Journal of Dermatology, 2009 Focal dermal hypoplasia (FDH) is an X-linked dominant disorder featuring developmental abnormalities of ectodermal and mesodermal tissues. Pathogenic mutations in the PORCN gene (locus Xp11.23) were identified in 2007 and thus far 27 different mutations ...
John S McGrath +2 more
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2014
Focal dermal hypoplasia (FDH) consists of various skin anomalies and abnormalities of the skeleton, especially the limbs. The skin features include focal absence of skin and linear or reticular hyperpigmentation or hypopigmentation of the skin, herniation of fat through the dermal defects, and multiple papillomas of the mucous membranes or skin, such ...
Stefan Mundlos, Denise Horn
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Focal dermal hypoplasia (FDH) consists of various skin anomalies and abnormalities of the skeleton, especially the limbs. The skin features include focal absence of skin and linear or reticular hyperpigmentation or hypopigmentation of the skin, herniation of fat through the dermal defects, and multiple papillomas of the mucous membranes or skin, such ...
Stefan Mundlos, Denise Horn
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Osteopathia striata and focal dermal hypoplasia
Skeletal Radiology, 1979A 43-year old female, presenting with pain in the left knee, attributed to a stress fracture of the tibia, was found to have osteopathia striata and numerous other congenital anomalies, not only of the skeleton, but also of other tissue systems. Of the latter the most important was the presence of focal dermal hypoplasia, a disorder of the skin. Review
D, Knockaert, J, Dequeker
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Journal of Periodontology, 1989
Focal dermal hypoplasia syndrome (fdh) is a congenital disorder of mesodermal derivation with some ectodermal participation. The disorder, first described in 1962, is characterized by tenacious defects consisting of thinning of the skin; herniations of adipose tissue; abnormal skin pigmentation and other skeletal, dental, ocular, hair, and nail ...
R O, Greer, M W, Reissner
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Focal dermal hypoplasia syndrome (fdh) is a congenital disorder of mesodermal derivation with some ectodermal participation. The disorder, first described in 1962, is characterized by tenacious defects consisting of thinning of the skin; herniations of adipose tissue; abnormal skin pigmentation and other skeletal, dental, ocular, hair, and nail ...
R O, Greer, M W, Reissner
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Focal dermal hypoplasia in a father and daughter
Journal of the American Academy of Dermatology, 1981Focal dermal hypoplasia (FDH) is most often seen in females who have severe mesenchymal defects as well as distinctive cutaneous abnormalities. We describe a 45-year-old man with mild FDH limited entirely to the skin, who was never correctly diagnosed until he fathered a female infant with severe multisystem FDH.
W H, Burgdorf +3 more
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Focal dermal hypoplasia syndrome in a male
Clinical Genetics, 1975Focal dermal hypoplasia (Goltz syndrome) is characterized by a pathognomonic abnormality of the skin in association with other congenital defects. There are only seven males among the 52 reported cases. We report the eighth case in a male and evaluate the possible genetic origin of the syndrome.
M A, Toro-Sola +3 more
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Epilepsy in a Patient With Focal Dermal Hypoplasia
Pediatric Neurology, 2011Focal dermal hypoplasia is an X-linked, dominantly inherited syndrome of mesodermal and ectodermal deficits. Although profound dysplasia of connective tissue, especially in the skin and skeleton, inarguably constitutes a predominant feature of focal dermal hypoplasia, the disease occurs in a variety of organs of ectodermal and mesodermal origin ...
Hideaki, Kanemura +3 more
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Anophthalmia in the Focal Dermal Hypoplasia Syndrome
Archives of Ophthalmology, 1990We examined an orbital exenteration specimen from an anophthalmic patient with focal dermal hypoplasia. Eyelid angiofibromas were evident and immunoperoxidase studies for human papilloma virus were negative. Orbital tissue contained a ductal cyst, chronic inflammation of the lacrimal duct and sac, rudimentary conjunctival fornices, lacrimal gland ...
D M, Marcus, J W, Shore, D M, Albert
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Journal of the National Medical Association, 1979
A case of focal dermal hypoplasia (FDH) or Goltz syndrome is described. The patient is a black female infant whose syndrome was first diagnosed at birth. This is a disorder of the mesoectoderm which is manifested by pigmentary skin changes similar to other disease entities, eg, incontinentia pigmenti and Rothmund-Thomson disease, but it is easily ...
V E, Pessoa, R B, Surana
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A case of focal dermal hypoplasia (FDH) or Goltz syndrome is described. The patient is a black female infant whose syndrome was first diagnosed at birth. This is a disorder of the mesoectoderm which is manifested by pigmentary skin changes similar to other disease entities, eg, incontinentia pigmenti and Rothmund-Thomson disease, but it is easily ...
V E, Pessoa, R B, Surana
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Cutis, 1994
Focal dermal hypoplasia is a rare developmental disorder affecting skin, eyes, teeth, and musculoskeletal system. Focal dermal hypoplasia is transmitted as an X-linked dominant disorder but rare male cases occur due to half chromatid mutations. We report on a male child with focal dermal hypoplasia with skin and eye defects.
R R, Sule, D J, Dhumawat, M B, Gharpuray
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Focal dermal hypoplasia is a rare developmental disorder affecting skin, eyes, teeth, and musculoskeletal system. Focal dermal hypoplasia is transmitted as an X-linked dominant disorder but rare male cases occur due to half chromatid mutations. We report on a male child with focal dermal hypoplasia with skin and eye defects.
R R, Sule, D J, Dhumawat, M B, Gharpuray
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