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."
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."
Authors: Jillian F Rork; Jennifer T Huang; Leslie B Gordon; Monica Kleinman; Mark W Kieran; Marilyn G Liang Journal: Pediatr Dermatol Date: 2014-01-24 Impact factor: 1.588
Authors: Neil V Morgan; Mark R Morris; Hakan Cangul; Diane Gleeson; Anna Straatman-Iwanowska; Nicholas Davies; Stephen Keenan; Shanaz Pasha; Fatimah Rahman; Dean Gentle; Maaike P G Vreeswijk; Peter Devilee; Margaret A Knowles; Serdar Ceylaner; Richard C Trembath; Carlos Dalence; Erol Kismet; Vedat Köseoğlu; Hans-Christoph Rossbach; Paul Gissen; David Tannahill; Eamonn R Maher Journal: PLoS Genet Date: 2010-02-05 Impact factor: 5.917
Authors: Laura Ventura-Espejo; Inés Gracia-Darder; Silvia Escribá-Bori; Eva Regina Amador-González; Ana Martín-Santiago; Jan Ramakers Journal: Pediatr Rheumatol Online J Date: 2021-06-30 Impact factor: 3.054