H syndrome
| Classification according to ICD-10 | |
|---|---|
| D76.3 | Other histiocytosis syndromes |
| ICD-10 online (WHO version 2019) | |
The H-Syndrome , English histiocytosis-lymphadenopathy plus syndrome , is a very rare congenital form of systemic histiocytosis with the eponymous main features hyperpigmentation , hypertrichosis , hepatosplenomegaly , heart defects , hearing loss , hypogonadism and occasionally hyperglycaemia .
The following are added to this syndrome:
- Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID)
- Faisalabad histiocytosis (FHC)
- Familial sinus histiocytosis with massive lymphadenopathy (FSHML)
The name H syndrome was proposed in 2008 by the Israeli dermatologists V. Molho-Pessach and colleagues.
The disease should not be confused with HHH syndrome (triple H syndrome).
distribution
The frequency is given to be less than 1 in 1,000,000, so far about 100 patients have been reported. Inheritance is autosomal - recessive .
root cause
The disease are mutations in the SLC29A3 - gene on chromosome 10 locus Q22.2 based encoding the nucleoside transporter hENT3. The same gene is also involved in Rosai-Dorfman disease and dysosteosclerosis .
Clinical manifestations
Clinical criteria are:
- Manifestation during childhood
- Skin changes such as hyperpigmentation , hypertrichosis and hardened skin
- Sensorineural hearing loss
- Heart defects , hepatosplenomegaly , enlarged lymph nodes
- Insulin-dependent diabetes mellitus
- Hypogonadism with short stature , gynecomastia , late onset of puberty
- Vascular changes such as varicosis , dilated sclera vessels , telangiectasias in the face
- Exophthalmos , exocrine pancreatic insufficiency , kidney abnormalities
- Flexion contractures of the interphalangeal joints, hallux valgus
diagnosis
The diagnosis arises from the characteristic skin changes and the combination of clinical features. The blood sedimentation is massively accelerated, there is a slight microcytic anemia in the blood serum , and increased liver values . The diagnosis is confirmed by genetic testing .
Differential diagnosis
To be distinguished are Torg-Winchester syndrome , hemochromatosis , POEMS syndrome and Rosai-Dorfman disease .
literature
- M. Farooq, RM Moustafa, A. Fujimoto, H. Fujikawa, O. Abbas, AG Kibbi, M. Kurban, Y. Shimomura: Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin. In: Dermatology. Vol. 224, No. 3, 2012, pp. 277-284, doi: 10.1159 / 000338886 , PMID 22653152 .
- EA El-Khateeb: The H syndrome. In: Pediatric dermatology. Vol. 27, No. 1, 2010 Jan – Feb, pp. 65–68, doi: 10.1111 / j.1525-1470.2009.01076.x , PMID 20199414 (Review).
Individual evidence
- ↑ a b c d e f Orphanet
- ↑ H syndrome. In: Orphanet (Rare Disease Database).
- ↑ Hypertrichosis, pigmented, with insulin-dependent diabetes mellitus syndrome. In: Orphanet (Rare Disease Database).
- ^ Faisalabad histiocytosis. In: Orphanet (Rare Disease Database).
- ↑ Sinus histiocytosis, familial, with massive lymphadenopathy. In: Orphanet (Rare Disease Database).
- ^ V. Molho-Pessach, Z. Agha, S. Aamar, B. Glaser, V. Doviner, N. Hiller, DH Zangen, A. Raas-Rothschild, Z. Ben-Neriah, S. Shweiki, O. Elpeleg, A. Zlotogorski: The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. In: Journal of the American Academy of Dermatology. Vol. 59, No. 1, July 2008, pp. 79-85, doi: 10.1016 / j.jaad.2008.03.021 , PMID 18410979 .
- ↑ Histiocytosis-lymphadenopathy plus syndrome. In: Online Mendelian Inheritance in Man . (English)
