Ramesh V, Sood N, Kubba A, Singh B, Makkar R
Department of Dermatology, Deen Dayal Upadhyaya Hospital, Hari Nagar, New Delhi, India.
J Eur Acad Dermatol Venereol. 2007 Jul;21(6):766-70. doi: 10.1111/j.1468-3083.2006.02085.x.
To study the clinical and histopathological features of familial reactive perforating collagenosis (RPC).
Ten patients, including affected siblings in three, took part in the study. Parental consanguinity was present in one. Histopathological study was performed in all patients.
The eruptions appeared mainly during infancy or early childhood as papules showing a central plug, which subsided within 10 weeks. Areas commonly affected were the face, extremities and trunk. Rare sites were the scalp, ears and buttocks. One pregnant woman, in whom RPC had first manifested around puberty, had relatively widespread lesions. In those with seasonal variation, recurrences were seen a little more frequently in summer than in winter owing to the longer duration of the former. Histopathology confirmed the diagnosis with follicular involvement in four cases. In two patients whose backs were also affected, the lesions went unnoticed, as they were small and inconspicuous. In addition, the brother of a girl with RPC who claimed to be free of the dermatosis, had facial scars suggestive of RPC in the past.
Familial RPC can remain quiescent for a long period and the inherited defect not only shows extreme variability in expression but also demonstrates that lesions can be few and localized so as to escape notice in individuals and family members presenting with this benign, uncommon and self-subsiding dermatosis. In all patients topical retinoic acid was helpful in early regression. Sunscreens may mitigate the severity of RPC in those whose lesions are precipitated in summer but this needs further evaluation.
研究家族性反应性穿通性胶原病（RPC）的临床和组织病理学特征。
10名患者参与了本研究，其中包括3对患病的兄弟姐妹。1例存在父母近亲结婚情况。对所有患者均进行了组织病理学研究。
皮疹主要在婴儿期或幼儿期出现，表现为带有中央栓子的丘疹，10周内消退。常见受累部位为面部、四肢和躯干。罕见部位为头皮、耳朵和臀部。1名孕妇，其RPC首次出现在青春期左右，病变相对广泛。在有季节性变化的患者中，由于夏季持续时间较长，复发在夏季比冬季更常见。组织病理学确诊了4例伴有毛囊受累的病例。2例背部也受累的患者，由于病变小且不明显，未被注意到。此外，1名患RPC女孩的哥哥自称无皮肤病，但面部有提示既往患RPC的瘢痕。
家族性RPC可长期静止，遗传缺陷不仅在表达上表现出极大变异性，而且表明病变可能很少且局限，以至于在患有这种良性、罕见且可自愈的皮肤病的个体和家庭成员中未被注意到。对所有患者而言，局部使用维甲酸有助于早期消退。对于病变在夏季诱发的患者，防晒霜可能会减轻RPC的严重程度，但这需要进一步评估。
