Figure 1

Pedigree drawing of a consanguineous Pakistani family and clinical features observed in affected members. (a) Pedigree drawing of a consanguineous Pakistani family with a neuro-ichthyotic disorder. Circles and squares represent females and males, respectively. Clear symbols represent unaffected individuals while filled symbols represent affected individuals. Symbols with crossed lines represent deceased individuals. Symbols with a star represent the samples that were available for the study. (b-c) clinical features of hereditary ichthyosis with dry, erythematous and hyperkeratotic skin on hands and feet of 18 year old affected individual IV-1; (d-e) and 14 year old affected individuals IV-2. (f-h) Histological examination of a skin biopsy of the affected individual IV-1 showed hyperkeratosis and acanthosis of the epidermis, with edema of the basal layer of epidermis and sparse lymphocytic cellular infiltrate scattered in the dermis mainly around the blood vessels. Informed written consent for the study and presentation of the photographs for publication was obtained from affected and unaffected individuals and their parents.