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A Journal on Dermatology and Sexually Transmitted Diseases

Official Journal of the Italian Society of Dermatology and Sexually Transmitted Diseases
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Giornale Italiano di Dermatologia e Venereologia 1998 August;133(4):285-9

language: Italian

Hydrotic ectodermal dysplasia (Clouston syndrome) with deafness, strabismus, nystagmus, cutaneous squamous cell carcinoma, oral leukoplakia and other anomalies. Report of a previously underscribed case

Ena P. 1, Mazzarello V. 2

1 Università degli Studi - Sassari, Istituto di Clinica Dermatologica;
2 Dipartimento di Scienze Biomediche, Sezione di Anatomia Umana


Ectodermal dysplasias form a heterogeneous group of clinically and genetically distinct syndromes. The case of a 50-year-old-woman with unusual hydrotic ectodermal dysplasia (HED) of the Clouston type, associated with numerous anomalies is described. Prominent findings of the disease included diffuse hypotrichosis, with absent eyebrows and eyelashes and onychodysplasia; normal sweating and palmoplantar keratoderma. This patient also shows other anomalies including deafness, strabismus, congenital nystagmus. A pattern of minor defects includes brachydactyly, pes cavus, mallet 2nd toe, os tibiale externum, multiple melanocytic nevi, oligoamenorrhoea, slight mental retardation, glossitis, fibrocystic mastopathy, low stature. Keratosis palmaris et plantaris began at the age of 17 and steadily became more striated. Teeth developed normally but were affected with caries. During the last few years she developed two well differentiated keratoblastic squamous cell carcinoma on her right hand and a bilateral leukoplakia of the mouth. Her karyotipe and tumour-marker studies were normal. No hair anomalies were found under scanning electron microscopy and using X-ray microanalysis. Plasma levels of amino acid were within the normal range. In our knowledge, this is the first report of a new variant of HED distinct from previously described cases.

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