Hereditary bullous acrokeratotic poikiloderma of Weary‐Kindler associated with pseudoainhum and sclerotic bands
Authors: Krunic Aleksandar L. J. , Ljiljana Medenica , Novak Angelina , Carlos Garcia , Clark Robert E. 
Published: August 2010

A 15‐year old young man presented with a long history of diffuse nnottled pigmentation of the skin associated with wrinkling, increased fragility, and palmar and plantar keratotic papules and sclerotic bands. The patient was the product of an apparently normal pregnancy and appeared to be normal at birth. The parents were nonrelated and the family history for skin disease was negative. Since the third day from birth, and throughout infancy and childhood, he was noted to have acral blisfering, appearing after Krunic et al. trauma or spontaneously. The blister fluid was clear of blood‐tinge, and the healing process was without scarring or milia. Past medical history was also significant for sun hypersensitivity during childhood, which improved with age. Between the second and third years of life, the patient had started to develop faciai erythema and telangiectasia as well as progressive poikiioderma and atrophy of the skin on the trunk and extremities associated with diffuse hyperkeratosis of the paims and soles. Blistering tendency had aimost disappeared during recent years, but he developed keratotic papules on both feet, as well as bilateral sclerotic bands on the wrists and around several fingers. He also experienced increased gingival fragility with bleeding episodes, but other mucosal membranes were otherwise normal, as well as his hair, eyes, and nails. His mental and physical growth and developmental milestones were within normal limits.

Upon physical examination, the facial skin demonstrated reticuiar erythema and telangiectasia, predominantiy on the cheeks and iower face, with prominent poikilodermatous involvement of the neck area (Fig. 1). The skin on the trunk and extremities was soft, shiny and atrophic, with cigarette‐paper‐like wrinkiing, especiaily pronounced on the dorsum of the hands (Fig. 2a) and feet, knees and elbows. Dyschromatous macuies were distributed over the entire skin of the trunk and extremities, associated with telangiectasia (Fig. 3a and b). The examination of the paims and soies reveaied punctate hyperkeratosis, as weii as larger papular and piaque‐iike hyperkeratoses in the piantar region of both feet (Fig 2b). Webbing, noticed predominantiy between the fingers (Fig. 2a), was associated with hyperkeratotic sclerotic reticuiar bands in the wrist area (Fig. 4a) as weil as pseudoainhum formation (Fig. 4b) around the 3rd, 4th, and 5th fingers on both hands. Apart from siight gingival sweliing, no other mucosai lesions were appreciated.

Laboratory data inciuding compiete blood count, blood chemistries, urinalysis, porphyrin studies, antinuclear antibodies, VDRL, aminoacid screening assays, and chromosome studies, were all within normal limits. Subsequent radiographic studies, as well as abdominai and cardiac ultrasound, disciosed no viscerai or skeletal abnormalities.

A 3‐mm punch biopsy (Fig. 5), obtained from the poikilodermatous abdominal skin, demonstrated epidermai atrophy, vacuolar degeneration of the basal iayer as well as increased melanin in the basal keratinocytes. The dermal changes Inpluded pigmentary incontinence, loose lamelar fibrosis, moderate capillary dilatation and mild lymphocytic, perivascuiar infiltrate. Biopsy of the reticuiar hyperkeratotic, sclerotic band from the right wrist revealed hyperkeratosis and dense and homogenized collagen in the upper dermis. Biopsy of the plantar keratotic papule demonstrated hyperkeratosis, hypergranulosis and irreguiar acanthosis, with mild lymphohistiocytic infiltrate in the upper dermis. No signs of human papillomavirus infection were noticed (koilocytosis, intracytoplasmatic inclusions, parakeratosis).

Further follow‐up demonstrated siight improvement of the skin fragiiity, achieved by the use of emollients and sunscreens. Plantar keratotic papules and plaques were moderately recuperated with cryotherapy, wearing of weli‐fitting shoes and avoidance of trauma.