Vanderhooft S L, Francis J S, Holbrook K A, Dale B A, Fleckman P
Department of Medicine, University of Washington School of Medicine, Seattle, USA.
Arch Dermatol. 1995 Apr;131(4):448-53.
Familial pityriasis rubra pilaris is a rare autosomal dominant skin disorder. Four individuals from one family are described who demonstrate clinical features compatible with a diagnosis of familial pityriasis rubra pilaris. Results of light and electron microscopic, immunocytochemical, and biochemical analysis of skin biopsy specimens from three of these four individuals are presented.
All affected individuals demonstrated erythematous scaly skin with follicular prominence and islands of sparing. Inheritance was consistent with an autosomal dominant trait. Light and electron microscopic findings were compatible with those reported in sporadic cases of pityriasis rubra pilaris. Immunocytochemistry showed suprabasal staining with monoclonal antibody AE1. Immunoblot analysis revealed abnormal keratins with K6/16 expression, the possibility of an abnormal K14 or K16, and a 45-kd acidic keratin not normally expressed in epidermis. Because similar biochemical analyses have not been reported previously in other cases of pityriasis rubra pilaris (familial or sporadic), comparisons cannot be made.
The observations suggest that the cutaneous abnormality in this family extends beyond clinical and morphological alterations to abnormalities in biochemical markers of epidermal differentiation.
家族性毛发红糠疹是一种罕见的常染色体显性遗传性皮肤病。本文描述了来自同一个家族的4名个体，他们表现出与家族性毛发红糠疹诊断相符的临床特征。文中呈现了这4名个体中3人的皮肤活检标本的光镜、电镜、免疫细胞化学及生化分析结果。
所有受累个体均表现为红斑鳞屑性皮肤，伴有毛囊突出及散在的正常皮肤岛。遗传方式符合常染色体显性遗传特征。光镜和电镜检查结果与散发性毛发红糠疹病例报道相符。免疫细胞化学显示用单克隆抗体AE1进行基底上层染色。免疫印迹分析显示角蛋白异常，有K6/16表达，可能存在K14或K16异常，以及一种在表皮中通常不表达的45-kd酸性角蛋白。由于此前在其他毛发红糠疹病例（家族性或散发性）中未报道过类似的生化分析，因此无法进行比较。
这些观察结果表明，该家族的皮肤异常不仅局限于临床和形态学改变，还涉及表皮分化生化标志物的异常。
