The H syndrome: A genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations

Vered Molho-Pessach, Ziad Agha, Suhail Aamar, Benjamin Glaser, Victoria Doviner, Nurith Hiller, David Haim Zangen, Annick Raas-Rothschild, Ziva Ben-Neriah, Shaher Shweiki, Orly Elpeleg, Abraham Zlotogorski

Research output: Contribution to journalArticlepeer-review

Abstract

Background: The association of cutaneous hyperpigmented, hypertrichotic, and indurated patches associated with hearing loss, short stature, cardiac anomalies, hepatosplenomegaly, scrotal masses, and hypogonadism has not, to our knowledge, been previously recognized as a disease entity. Objective: We describe 10 patients with the above-mentioned findings. Methods: Patients were clinically examined and extensive laboratory evaluation was performed. Results: We describe 10 patients from 6 Arab consanguineous families with hyperpigmented, hypertrichotic, and indurated cutaneous patches involving the middle and lower parts of their bodies. In addition, patients displayed short stature, sensorineural hearing loss, cardiac anomalies, hepatosplenomegaly, and scrotal masses. Laboratory evaluation revealed growth hormone deficiency and hypergonadotropic hypogonadism with azoospermia. Cutaneous histopathologic examination showed hyperpigmentation of the basal layer with seborrheic-keratosis-like acanthosis, histiocytic infiltration, and a perivascular mononuclear infiltrate with plasma cells and mast cells throughout the dermis and subcutaneous fat. Comparison with several patients, recently reported in the medical literature, with similar cutaneous findings is made. Limitations: Laboratory evaluation in some patients was incomplete because of lack of cooperation. Conclusions: We suggest that our patients represent a novel multisystemic autosomal recessive inherited disorder. We call this constellation of symptoms the "H syndrome.".

Original languageEnglish
Pages (from-to)79-85
Number of pages7
JournalJournal of the American Academy of Dermatology
Volume59
Issue number1
DOIs
StatePublished - Jul 2008
Externally publishedYes

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