Nazarian Roya S, Hosseinipour Mojgan, Amin Bijal, Cohen Steven R
Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Division of Dermatology, Department of Medicine, Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, NY, USA.
SAGE Open Med Case Rep. 2020 May 6;8:2050313X20919613. doi: 10.1177/2050313X20919613. eCollection 2020.
Linear porokeratosis is a rare variant of porokeratosis that most often presents in newborns and children; development of this porokeratosis variant in adulthood is far less common. We report the case of a 25-year-old female who presented with a progressive eruption on the proximal upper extremity of 6-year duration, which was ultimately diagnosed as adult-onset linear porokeratosis and safely treated with oral isotretinoin. We propose that a sporadic mutation resulting in mosaicism after birth may explain the development of linear porokeratosis in adulthood, although the exact trigger of such a somatic mutation is not known. This case also describes a unique clinical presentation, with linear porokeratosis lesions originating on the proximal extremity rather than on the more common distal extremity. This demonstrates a distinctive clinical presentation not seen in the pediatric forms of disease.
线状汗孔角化症是汗孔角化症的一种罕见变体，最常出现在新生儿和儿童中；这种汗孔角化症变体在成年期出现的情况要少见得多。我们报告了一例25岁女性病例，其近端上肢出现进行性皮疹，病程长达6年，最终被诊断为成人型线状汗孔角化症，并通过口服异维A酸得到安全治疗。我们提出，出生后导致嵌合体的散发性突变可能解释了成年期线状汗孔角化症的发生，尽管这种体细胞突变的确切触发因素尚不清楚。该病例还描述了一种独特的临床表现，线状汗孔角化症病变起源于近端肢体而非更常见的远端肢体。这显示了在儿童疾病形式中未见的独特临床表现。
