A female child, a product of a nonconsanguineous parentage and normal pregnancy, was seen first at the age of 4 years. She had suffered from recurrent episodes of multiple, erythematous, confluent plaques and a few bu...A female child, a product of a nonconsanguineous parentage and normal pregnancy, was seen first at the age of 4 years. She had suffered from recurrent episodes of multiple, erythematous, confluent plaques and a few bullous lesions all over the body since infancy. The child was irritable but had no history of flushing, dyspnea, wheezing, or frequent diarrhea. Darier’s sign was strongly positive and systemic examination did not reveal any abnormality. Routine laboratory investigations were normal and a skin biopsy specimen revealed an unremarkable epidermis and dense proliferation of round to spindle-shaped mast cells which stained positive for metachromatic granules (Fig. 1). With the diagnosis of urticaria pigmentosa, she was managed with antihistaminic drugs and the parents were advised to handle the child gently. She did not report for further follow-up. Recently, the child, now 8 years of age, was brought again with finely wrinkled, lax, and redundant skin, especially of the face, giving her a senile appearance (Fig. 2). Systemic examination did not show any abnormality. History revealed that the child had been asymptomatic during the last 4 years even without treatment, but developed slowly progressive lax and pendulous skin. A repeat biopsy from the lax facial skin revealed sparse and fragmented elastic fibres, normal collagen, and a perivascular and intradermal cellular infiltrate composed of metachromatic mast cells. Her serum α1-antitrypsin levels were 190.0 mg/dL (normal, 93-224 mg/dL) and a pulmonary function test showed no abnormality. Treatment with antihistaminic drugs was started again and she was advised to have a cosmetic facial uplift at a later stage.展开更多
文摘A female child, a product of a nonconsanguineous parentage and normal pregnancy, was seen first at the age of 4 years. She had suffered from recurrent episodes of multiple, erythematous, confluent plaques and a few bullous lesions all over the body since infancy. The child was irritable but had no history of flushing, dyspnea, wheezing, or frequent diarrhea. Darier’s sign was strongly positive and systemic examination did not reveal any abnormality. Routine laboratory investigations were normal and a skin biopsy specimen revealed an unremarkable epidermis and dense proliferation of round to spindle-shaped mast cells which stained positive for metachromatic granules (Fig. 1). With the diagnosis of urticaria pigmentosa, she was managed with antihistaminic drugs and the parents were advised to handle the child gently. She did not report for further follow-up. Recently, the child, now 8 years of age, was brought again with finely wrinkled, lax, and redundant skin, especially of the face, giving her a senile appearance (Fig. 2). Systemic examination did not show any abnormality. History revealed that the child had been asymptomatic during the last 4 years even without treatment, but developed slowly progressive lax and pendulous skin. A repeat biopsy from the lax facial skin revealed sparse and fragmented elastic fibres, normal collagen, and a perivascular and intradermal cellular infiltrate composed of metachromatic mast cells. Her serum α1-antitrypsin levels were 190.0 mg/dL (normal, 93-224 mg/dL) and a pulmonary function test showed no abnormality. Treatment with antihistaminic drugs was started again and she was advised to have a cosmetic facial uplift at a later stage.
