Focal dermal hypoplasia syndrome

Hall, Ellis H.; Terézhalmy, Géza T.

doi:10.1016/s0190-9622(83)70157-x

Cited by 60 publications

(18 citation statements)

References 25 publications

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“…The auricular cartilages may be hypoplastic and combined neurosensory and conductive hearing loss may be noted. 16 Our patient did not have external ear defects or auditory problems.…”

Section: I44mentioning

confidence: 58%

Focal dermal hypoplasia (Goltz's syndrome)

Günduz

Günalp

Erden

1997

Ophthalmic Genetics

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A 17-year-old female with Goltz's syndrome was examined because of visual acuity loss in her right eye. Ocular examination revealed microcornea, iris, choroid and optic disc coloboma in the right eye. There were several erthematous and hyperpigmented areas on the body. Magnetic resonance (MR) imaging of the orbits and brain demonstrated right optic nerve hypoplasia and diffuse cortical and cerebellar atrophy. Skeletal manifestations were short stature, scoliosis, syndactyly, clinodactyly, and osteopathia striata. Dental defects included hypodontia, developmental defects, and malocclusion. There were multiple papillomatous lesions on the lids and perioral skin and the nose was asymmetric. Her mental development was apparently normal. She had left bifid ureter and renal pelvis, scant hair on the pubic and genital region, and poor breast development. Histopathologic examination of the biopsy taken from a characteristic skin lesion revealed attenuated epidermis, hypoplastic dermis, and subcutaneous fat close to epidermis. Immunofluorescence staining was negative for IgG, IgM, IgA, C3, C4, fibrin, and albumin. Ultrastructural examination showed that no viral particles were present. Prometaphase chromosome analysis revealed a normal 46, XX female karyotype. Cortical and cerebellar atrophy can occur in a patient with Goltz's syndrome.

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“…The auricular cartilages may be hypoplastic and combined neurosensory and conductive hearing loss may be noted. 16 Our patient did not have external ear defects or auditory problems.…”

Section: I44mentioning

confidence: 58%

Focal dermal hypoplasia (Goltz's syndrome)

Günduz

Günalp

Erden

1997

Ophthalmic Genetics

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“…These are among the most common cutaneous abnormalities of FDH reported in the literature with dermal hypoplasia (61.6%), fat herniations (46.4%), and papillomas (46.4%) of the lips, gums, perianal and perioral areas that may develop within the first few months of life (Hall and Terezhalmy, 1983).…”

Section: Discussionmentioning

confidence: 99%

“…Samejima et al reported similar association of focal dermal hypoplasia with omphalocele in 1981 (Samejima, 1981) Abnormalities of the genitourinary tract such as bifid ureter, bifid renal pelvis, horseshoe kidney, and hypoplastic or absent kidney can be present. Ectopic kidney is an important urologic finding with a reported incidence of 9% in the literature (Hall and Terezhalmy, 1983).…”

Section: Discussionmentioning

confidence: 99%

Focal dermal hypoplasia: Unusual presentation in Saudi Arabia

Alamri

Jabri

2016

Journal of Dermatology & Dermatologic Surgery

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Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem characterized by multiple abnormalities of ectodermal and mesodermal origin. It is found predominantly in females. We report a case of a two month-old baby girl who had dermal hypoplasia, atrophic skin lesions with telangiectasia in a linear pattern, fat herniations, papillomas and cleft of the upper lip, ectrodactyly, claw hands, microphthalmia and unusual association of gastrointestinal omphalocele. Ó 2015 The Authors. Production and hosting by Elsevier B.V. on behalf of King Saud University. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

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“…The range of clinical manifestations in adults with FDH has been well documented [Hall and Terezhalmy, 1983;Goltz et al, 19701. However, we were only able to identify 10 other newborn infants reported to have FDH in the English literature [Berganovic and Lommen, 1977;Burgdorf et al, 1981;Goltz et al, 1962;Gottlieb et al, 1973;Kunze et al, 1979;Pessoa and Surana, 1979;Prentice and Mackie, 1982;Thomas et al, 1979;Valerius, 1974;Welsh, 19751.…”

Section: Discussionmentioning

confidence: 99%