Flaccid bullae that rapidly rupture leaving raw erosions have been noticed since first one month of life. The blisters involved mainly the lower limbs specially acral parts but also the face and trunk were also affected. Fortunately, the nails and mucous membranes were spared. Skin biopsy showed skin split within the basal cells of the epidermis. Family history of similar condition was negative.
A two-day-old male neonate presented with a generalized erythroderma involved the entire body integument. He has been born enclosed in a collodion-like membrane. Ectropion and some degree of eclabium were evident on examination.
A 22-year-old male presented with a unilateral spotty brownish pigmentation on a background of lighter hyperpigmentation involved most of the left side of the face since birth.
This 36-year-old man gave history of multiple wart-like lesions on one side of the abdomen since early childhood. On examination, a zosteriform verrucous epidermal nevus was found. The nevus consisted of numerous, brownish plane wart- like papules of unilateral distribution involving mainly T10 dermatome of the right side of the abdomen. The lesions were asymptomatic and there were no associated neurological or skeletal abnormalities.
A 21-year-old female has an extra-thumb since birth. The supernumerary thumb is well formed and covered with well developed nail plate. She had no associated cardiovascular, musculoskeletal or neurological developmental defects.
A 31-year-old female developed extensive freckling with photophibia since age of 6 years. Her parents are cousins and she has 2 sisters and 2 brothers, one of her sisters also affected with XP.
Xeroderma pigmentosum is a heterogeneous group of autosomal recessive disorders, characterized by the defective repair of DNA after its damage by ultraviolet radiation. Clinically, it is characterized by multiple freckles and keratoses on exposed skin appear between the ages of 6 months and 2 years. Photosensitivity increases thereafter. Telangiectases, small angiomas and many tumours develop on light-damaged skin: these include basal cell carcinomas, squamous cell carcinomas, keratoacanthomas and malignant melanomas. Eye problems are common and include photophobia, conjunctivitis and ectropion.
A 24-year-old male presented with multiple, asymptomatic, skin-colored, grouped papules and plaques involving the lower part of the thigh of two years duration. Skin biopsy showed normal epidermis overlying increased deposition of dense collagen bundles in the lower dermis. Collagenomas or connective tissue nevi are hamartomas that can be divided into familial, associated with tuberous sclerosis, eruptive and other isolated variants.
A 28-year-old man presented with a linear lesion on the side of the neck. The lesion has been present since early childhood and consists of closely set, papillomatous, hyperkeratotic, dark-coloured papules on one side of the neck. There were no pruritus, erythema or associated skeletal or neurological defects were found.
