Vered Molho-Pessach1, Yuval Ramot1, Frances Camille2, Victoria Doviner3, Sofia Babay4, Siekavizza Juan Luis5, Valentina Broshtilova6, Abraham Zlotogorski7. 1. Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Center for Genetic Diseases of the Skin and Hair, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. 2. Department of Dermatology-Allergology, University Paris IV, Tenon Hospital, Paris, France. 3. Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. 4. Center for Genetic Diseases of the Skin and Hair, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. 5. Private clinic, Guatemala City, Guatemala. 6. Department of Dermatology, Faculty of Medicine, Medical University of Sofia, Sofia, Bulgaria. 7. Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Center for Genetic Diseases of the Skin and Hair, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. Electronic address: zloto@cc.huji.ac.il.
Abstract
BACKGROUND: H syndrome is an autosomal recessive genodermatosis with multisystem involvement caused by mutations in SLC29A3. OBJECTIVE: We sought to investigate the clinical and molecular findings in 79 patients with this disorder. METHODS: A total of 79 patients were included, of which 13 are newly reported cases. Because of the phenotypic similarity and molecular overlap with H syndrome, we included 18 patients with allelic disorders. For 31 patients described by others, data were gathered from the medical literature. RESULTS: The most common clinical features (>45% of patients) were hyperpigmentation, phalangeal flexion contractures, hearing loss, and short stature. Insulin-dependent diabetes mellitus and lymphadenopathy mimicking Rosai-Dorfman disease were each found in approximately 20%. Additional systemic features were described in less than 15% of cases. Marked interfamilial and intrafamilial clinical variability exists. Twenty mutations have been identified in SLC29A3, with no genotype-phenotype correlation. LIMITATIONS: In the 31 patients described by others, data were collected from the medical literature. CONCLUSIONS: H syndrome is a multisystemic disease with clinical variability. Consequently, all SLC29A3-related diseases should be considered a single entity. Recognition of the pleomorphic nature of H syndrome is important for diagnosis of additional patients.
BACKGROUND:H syndrome is an autosomal recessive genodermatosis with multisystem involvement caused by mutations in SLC29A3. OBJECTIVE: We sought to investigate the clinical and molecular findings in 79 patients with this disorder. METHODS: A total of 79 patients were included, of which 13 are newly reported cases. Because of the phenotypic similarity and molecular overlap with H syndrome, we included 18 patients with allelic disorders. For 31 patients described by others, data were gathered from the medical literature. RESULTS: The most common clinical features (>45% of patients) were hyperpigmentation, phalangeal flexion contractures, hearing loss, and short stature. Insulin-dependent diabetes mellitus and lymphadenopathy mimicking Rosai-Dorfman disease were each found in approximately 20%. Additional systemic features were described in less than 15% of cases. Marked interfamilial and intrafamilial clinical variability exists. Twenty mutations have been identified in SLC29A3, with no genotype-phenotype correlation. LIMITATIONS: In the 31 patients described by others, data were collected from the medical literature. CONCLUSIONS:H syndrome is a multisystemic disease with clinical variability. Consequently, all SLC29A3-related diseases should be considered a single entity. Recognition of the pleomorphic nature of H syndrome is important for diagnosis of additional patients.
Authors: Jean-François Emile; Oussama Abla; Sylvie Fraitag; Annacarin Horne; Julien Haroche; Jean Donadieu; Luis Requena-Caballero; Michael B Jordan; Omar Abdel-Wahab; Carl E Allen; Frédéric Charlotte; Eli L Diamond; R Maarten Egeler; Alain Fischer; Juana Gil Herrera; Jan-Inge Henter; Filip Janku; Miriam Merad; Jennifer Picarsic; Carlos Rodriguez-Galindo; Barret J Rollins; Abdellatif Tazi; Robert Vassallo; Lawrence M Weiss Journal: Blood Date: 2016-03-10 Impact factor: 22.113
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