The H syndrome: A genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations Vered Molho-Pessach, MD, a,b Ziad Agha, MD, a Suhail Aamar, MD, c Benjamin Glaser, MD, d Victoria Doviner, MD, e Nurith Hiller, MD, f David Haim Zangen, MD, g Annick Raas-Rothschild, MD, h Ziva Ben-Neriah, MD, h Shaher Shweiki, MD, i Orly Elpeleg, MD, j and Abraham Zlotogorski, MD a,b Jerusalem, Israel 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.’’ ( J Am Acad Dermatol 2008;59:79-85.) D uring recent years, several patients with an unusual clinical picture were examined in our dermatology department. The major cu- taneous findings were progressive sclerodermatous thickening, mainly of the skin of the middle and lower parts of the body, with overlying hyperpig- mentation. Additional systemic manifestations in- cluded short stature, sensorineural hearing loss, cardiac anomalies, hepatosplenomegaly, scrotal masses, and azoospermia. The report below sum- marizes our findings in 10 Arab patients (9 male and one female) from 6 consanguineous unrelated fam- ilies. The very similar clinical picture, inheritance pattern, and geographic aggregation of the patients suggest that they present a new autosomal recessive multisystemic disorder. From the Departments of Dermatology, a Rheumatology, c Endo- crinology and Metabolism Service, d Pathology, e Radiology, f Pediatric Endocrinology, g Human Genetics, h Pediatric Meta- bolic Unit, j and the Center for Genetic Diseases of the Skin and Hair, b Hadassah-Hebrew University Medical Center; and De- partment of Pediatrics, i Makassed Islamic Hospital. Supported by the Authority for Research and Development, Hebrew University of Jerusalem (Dr Zlotogorski). Conflicts of interest: None declared. Accepted for publication March 11, 2008. Reprints not available from the authors. Correspondence to: Abraham Zlotogorski, MD, Department of Dermatology, Hadassah-Hebrew University Medical Center, PO Box 12000, Jerusalem 91200, Israel. E-mail: zloto@cc.huji.ac.il. Published online April 14, 2008. 0190-9622/$34.00 ª 2008 by the American Academy of Dermatology, Inc. doi:10.1016/j.jaad.2008.03.021 79