Department of Dermatology, Jordanian Royal Medical Services, King Husien Center. JRMS, KHMC, Amman, Jordan.
Med Arch. 2022 Aug;76(4):301-304. doi: 10.5455/medarh.2022.76.301-304.
Focal dermal hypoplasia is a genetic disease of multiple systems initially affecting the skin, skeleton, dental, eyes and face with developmental abnormalities and facial dysmorphism. Focal dermal hypoplasia is X-linked dominant disease affecting the ectoderm, mesoderm and endoderm. 95% feature de novo and 90% of these are females. Focal dermal hypoplasia is induced by a mutation in the PORCN gene.
The aim of this article is to present a case of a one-year-old girl child with multi-hypopigmented reticulated atrophic macules and patches grouped in linear mode at the lines of blaschko, skeleton abnormalities, umbilical hernia, developmental delay, hypoplastic nails, syndactyly and lobster claw deformity.
A one-year-old girl child presented to the dermatology clinic with asymptomatic lesions since childhood with no improvement, with multi- hypopigmented skin lesions on the trunk and extremities since birth as linear erosions that heal gradually during few days, leaving peripheral hypopigmentation with hyperpigmentation with anomalies of limbs and nails and delayed development. She was born by normal vaginal delivery and weighed 2.5 kg at birth. None of the family members had such features. She had dental enamel anomaly and partial anodontia in the lower jaw. Sparse hair and partial alopecia (scalp, eyebrows and eyelashes) were recorded.
Focal dermal hypoplasia is a congenital skin disease with a unique clinical feature. Thorough examination of the extremities is indicated for early proper genetic counseling and therapy.
局灶性真皮发育不良是一种多系统的遗传性疾病，最初影响皮肤、骨骼、牙齿、眼睛和面部，伴有发育异常和面部畸形。局灶性真皮发育不良是一种 X 连锁显性疾病，影响外胚层、中胚层和内胚层。95%的病例为新生突变，其中 90%为女性。局灶性真皮发育不良是由 PORCN 基因突变引起的。
本文旨在介绍一例 1 岁女孩，患有多发性色素减退性网状萎缩性斑疹和斑块，呈线性模式分布于 Blaschko 线，骨骼异常，脐疝，发育迟缓，甲营养不良，并指和龙虾爪畸形。
一名 1 岁女孩因出生后即有无症状皮损，无改善，躯干和四肢有多个色素减退性皮损，呈线性糜烂，逐渐在数天内愈合，留下周围色素减退伴色素沉着，伴有四肢和指甲畸形及发育迟缓而就诊皮肤科。她经正常阴道分娩，出生体重 2.5 公斤。家族成员均无此类特征。她有牙釉质异常和下颌部分无牙。记录到稀疏的头发和部分脱发（头皮、眉毛和睫毛）。
局灶性真皮发育不良是一种先天性皮肤病，具有独特的临床特征。应彻底检查四肢，以便及早进行适当的遗传咨询和治疗。
