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.
A 30-year-old darkly-complexioned woman presented with a slightly itchy and scaly hyperpigmented confluent reticulated papules confined to the intermammary region of two years duration. This condition also is known as Gougerot and Carteaud disease.
A 67-year-old man presented with an about 2.5 cm long asymptomatic cutaneous horn arouse from a hyperkeratotic base involved the middle part of the auricle of many years duration. Excisional biopsy showed actinic keratosis at the base of the horn.
A 2-week-old neonate born enclosed in a transparent, glistening, collodion-like sac presented with generalized erythema with shiny, tight, fissured skin allover the body with some degree of ectropion and eclabium.
A 69-year-old man presented with multiple, asymptomatic, infiltrative, red and purplish plaques and nodules of more than two years duration. Cervical, axillary and inguinal lymph nodes were involved and hepatosplenomegally was easily detectable on physical examination. kin biopsy confirmed B-cell lymphoma.
A 50-year-old man presented with solitary, pruritic, dull-red, dome-shaped, retroauricular nodule of three months duration. Excisional biopsy confirmed ALHE.
