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Skin Abnormalities

Known as: malformations skin, Skin Abnormality, Skin Abnormalities [Disease/Finding] 
A skin abnormality that is present at birth or detected in the neonatal period.
National Institutes of Health

Related topics

Related topics

43 relations
Abnormal dermatoglyphicsAplasia Cutis CongenitaBloch Sulzberger syndromeEctodermal Dysplasia

Narrower (25)

Acrodermatitis enteropathicaBarber Say syndromeBook SyndromeChrist-Siemens-Touraine syndrome

Broader (2)

Congenital anomaly of integument (disorder)Dermatologic disorders

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Favorably skewed X‐inactivation accounts for neurological sparing in female carriers of Menkes disease
Desai V, Donsante A, Swoboda KJ, Martensen M, Thompson J, Kaler SG. Favorably skewed X‐inactivation accounts for neurological… 
2009
2009
The psychiatric profile of patients with psychogenic excoriation.
2002
2002
A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large…
Congenital cerebellar ataxias are a heterogeneous group of non-progressive disorders characterized by hypotonia and developmental… 
1999
1999
Loricrin gene mutation in a Japanese patient of Vohwinkel's syndrome.
1998
1998
Molecular basis for the rhino Yurlovo (hrrhY) phenotype: severe skin abnormalities and female reproductive defects associated with an insertion in the hairless gene
In 1989, mice bearing mutations at the hr (hairless) locus were first proposed as a model for the human hair growth disorder… 
Review
1994
Review
1994
Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy?
A infant girl had red stellate skin lesions on the cheeks and neck, and mildly short palpebral fissures. Her skin abnormality was… 
1992
1992
Accumulation of membrane‐bound melanosomes occurs in Langerhans cells of patients with the Leopard Syndrome
The Langerhans cells in the lentigines of four patients with the Leopard syndrome contained large membrane bound accumulations of… 
1992
1992
Clinical response of alopecia, trichorrhexis nodosa, and dry, scaly skin to zinc supplementation.
1978
1978
[Genetic interpretation of linear skin abnormalities].
  • R. Happle
  • Der Hautarzt; Zeitschrift fur Dermatologie…
  • 1978
  • Corpus ID: 38954966
For the linear distribution of congenital skin lesions, modern genetics offers several explanations. Localized linear nevi may be… 
1974
1974
Unilateral and bilateral renal agenesis in monoamniotic twins.
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