Kansal Naveen Kumar, Agarwal Saurabh
Department of Dermatology and Venereology, All India Institute of Medical Sciences, Rishikesh 249201, Uttarakhand, India;
Department of Dermatology and Venereology, Government Medical College, Haldwani (Nainital) 263139, Uttarakhand, India.
Skinmed. 2017 Jun 1;15(3):223-225. eCollection 2017.
A 45-day-old infant was brought by his parents to the dermatology outpatient department with chief complaints of asymptomatic, depigmented lesions that had been present on his skin since birth. On mucocutaneous examination, large rhomboid-shaped depigmented macules were noted on the abdomen and lower extremities bilaterally (Figure 1). A depigmented macule was present on the forehead, with white hair (leukotrichia; a "developing forelock") (Figure 2). Three hyperpigmented lesions (café-au-lait macules [CALMs]) were also noted on the chest (Figure 1a). There was no history of consanguinity, and the family history was negative. The infant was otherwise normal for his age. A diagnosis of "piebaldism with CALMs" was made, and his parents were counseled about the disease and its progression, and possible treatment options as the child grew. They were also informed about a currently unquantifiable risk of future development of Legius syndrome or neurofibromatosis type 1 (NF1), and were counseled for regular follow-up.
一名45天大的婴儿被父母带到皮肤科门诊，主要症状是自出生以来皮肤上就有无症状的色素脱失性皮损。在黏膜皮肤检查中，双侧腹部和下肢可见大的菱形色素脱失斑（图1）。前额有一个色素脱失斑，伴有白发（白发症；“进展性额发”）（图2）。胸部还发现了3个色素沉着性皮损（咖啡斑[CALMs]）（图1a）。无近亲结婚史，家族史阴性。该婴儿在其年龄阶段其他方面正常。诊断为“伴有CALMs的斑驳病”，并向其父母咨询了该疾病及其进展情况，以及孩子长大后可能的治疗选择。他们还被告知目前无法量化的未来发生Legius综合征或1型神经纤维瘤病（NF1）的风险，并接受了定期随访的建议。
