Youness Zeinab, Hallal Marwa, Makhoul Rita
Department of Dermatology, Military Hospital, Beirut, Lebanon.
Dermatology Department, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Case Rep Dermatol Med. 2025 Jul 12;2025:8876939. doi: 10.1155/crdm/8876939. eCollection 2025.
We report the case of a three-month-old boy presenting with dystrophic nails, hyperhidrosis, congenital natal teeth, and milia-like lesions on the nose, without a family history of pachyonychia congenita (PC). Genetic testing confirmed a heterozygous pathogenic mutation (c.275A > G) in the gene, establishing the diagnosis of PC Type II. PC is a rare genetic disorder affecting keratinization, with variable clinical manifestations that can complicate early recognition. This case highlights the importance of molecular testing and dermatologic expertise in diagnosing and managing PC.
我们报告了一例三个月大的男婴，其表现为指甲营养不良、多汗症、先天性乳牙以及鼻子上的粟丘疹样损害，且无先天性厚甲症（PC）家族史。基因检测证实该基因存在杂合致病性突变（c.275A＞G），从而确立了II型PC的诊断。PC是一种影响角化的罕见遗传性疾病，临床表现多样，可能使早期识别变得复杂。该病例突出了分子检测和皮肤科专业知识在PC诊断和管理中的重要性。
