Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: A new genodermatosis?

Follicular atrophoderma is a rare anomaly observed mainly in the X‐dominant form of chondrodysplasia punctata (Conradi‐Hünermann‐Happle syndrome) and in the X‐linked dominant Bazex syndrome. We report on five Emirati sibs (three girls and two boys), 4–18 years old, with normal stature, diffuse conge...

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Veröffentlicht in:	American journal of medical genetics 1998-01, Vol.75 (2), p.186-189
Hauptverfasser:	Lestringant, Gilles G., Küster, Wolfgang, Frossard, Philippe M., Happle, Rudolf
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - pathology Adolescent Adult Arylsulfatases - metabolism Biological and medical sciences Child Child, Preschool Consanguinity Dermatology Female follicular atrophoderma genodermatosis Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue Humans Hypohidrosis - pathology Hypotrichosis - pathology ichthyosis Ichthyosis - pathology Male Medical sciences Microscopy, Electron Pedigree Skin - pathology Skin Abnormalities - pathology Steryl-Sulfatase Tropical medicine United Arab Emirates
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