Rare Diseases Symptoms Automatic Extraction

X-linked ichthyosis along with epidermolysis bullosa.

[dystrophic epidermolysis bullosa]

Ichthyoses are a heterogenous group of hereditary keratinization disorders that share in common the accumulation & shedding of large amounts of hyperkeratotic epidermis. Early reports of ichthyosis in the Indian and Chinese literature date back to several hundred years. X-linked recessive ichthyosis (XLI) is a common disorder of keratinization and affects males who inherit an X-chromosome having a steroid sulphatase genetic mutation. In the present communication we report a case of XLI and dystrophic epidermolysis bullosa in the same patient. To the best of our knowledge it has been reported only once before.