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Genetic analysis of three large Indian pedigrees with autosomal dominant hidradenitis suppurativa
Author(s) -
Radhakrishna Uppala,
Mehta Timir Y.,
Solanki Jitendra V.,
Nath Swapan K.
Publication year - 2006
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1111/j.0906-6705.2006.0436e.x
Subject(s) - hidradenitis suppurativa , penetrance , medicine , dermatology , pedigree chart , buttocks , lymphedema , family history , scars , groin , pathology , genetics , biology , anatomy , phenotype , cancer , surgery , gene , disease , breast cancer
Hidradenitis suppurativa (HS: OMIM 142690) is an aggravating chronic inflammatory skin condition characterized by swollen, painful, inflamed lesions in the axillae, groin, and other parts of the body that contain apocrine glands. Incidence ranges from 0.1/100 to 4/100 in adults. It affects more females than males. The risk of developing non‐melanoma skin cancer is very high among patients with HS (Arch Dermatol 2001: 137: 730–734). This chronic condition is familial, which supports its genetic basis. However the causative gene(s) is not yet identified. We have studied three large Indian hidradenitis suppurativa families with an apparent autosomal dominant mode of inheritance and 100% penetrance. No skipping of generations was observed. Pedigrees consist of 149 individuals, including 48 affecteds (20 males/28 females). The age of onset is 25–35 years. Histopathological studies were conducted in selected affecteds. The expression of the phenotype was quite variable within these families, and the majority was severely affected. All affecteds had typical characteristics of HS. Clinical findings included folliculitis, gastrointesinal (GI) polyps, sinuses axillae, cutaneous scars, retinal haemorrhage, epidermoid carcinoma, and polymorph function defects. Six of the affected females had hirsutism. Affected body parts included tops of inner thighs, genitals, groin, buttocks, and under the breasts in women. Skin grafting was performed in some of the affecteds. A few deaths due to squamous cell carcinoma were reported in these families. Cytogenetic analysis of two affecteds from each family did not show any abnormality. Genomewide linkage analysis is in progress to map the elusive locus and provide a target for positional cloning.