Hyalinosis cutis et mucosae : 5 cases from Tabarka (Tunisia)

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Published May 9, 2011
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Vol. 89 No. 5 (2011): Issue May 2011

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Anis Mahfoudh
Talel Badri
Rym Benmously
Salima Ben Jennet
Achraf Debbiche
Sami Fenniche

Abstract

Background: Hyalinosis cutis et mucosae (HCM), is a rare autosomal recessive genodermatosis. Cutaneous features are characteristic and allow to suspect diagnosis.
Aim: To report a series of HCM.
Methods: A retrospective study of all cases of HCM, diagnosed in a dermatology department over a period of 25 years (1983-2007).
Results: Over the considered period, 5 new cases of HCM were diagnosed. Patients were aged between 14 and 41 years. They were 3 females and 2 males. All patients were native of Tabarka (northwestern Tunisia). The age of the onset of the disease varied from neonatal period to 5 years. Hoarseness was the first clinical manifestation in all cases. Skin lesions developed between the ages of 3 and 8 years. Vesiculobullous lesions were observed in 2 patients. Moniliform blepharosis was seen in all patients. Warty and hyperkeratotic papules were observed in 3 patients. Diffuse thickening of the skin was seen in 3 patients. Lesions were primarily distributed on the face. All patients presented diffuse scars. Linear palmoplantar keratoderma was seen in one patient. Asymptomatic endocranial calcifications were noted in 4 patients. A pituitary adenoma was noted in one patient. Histopathological examination of a skin lesion revealed a typical pattern of HCM. Two patients were treated with systemic retinoids without improvement.
Conclusion: We reported five new cases of HCM. All patients were native from Tabarka. We report also one case of linear palmar keratoderma associated with HCM. This association was not reported in the literature. Finally, the association HCM-pituitary adenoma, seen in one patient, may be fortuitous.

Keywords:

Hyalinosis cutis et mucosae, Tunisia, skin

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