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Focal Dermal Hypoplasia Due to De Novo Mutation c.1061T>C(p.Leu354Pro) in the PORCN Gene: Importance of Early Diagnosis and Multidisciplinary Follow-Up

Focal dermal hypoplasia (FDH) is a rare multisystem disorder characterized by abnormalities in tissues derived from the meso-ectoderm, mainly affecting the skin, eyes, teeth and skeleton. We present the case of a young girl with FDH due to de novo mutation c.1061T>C (p.Leu354Pro) in the PORCN gene, responsible for defects in bone, eyes, skeleton, heart, maxillary and anus/rectum malformation. At birth, an infectious etiology and cutaneous syndromes that produce similar skin lesions were ruled out. Clinical manifestations led to the diagnosis of FDH, subsequently confirmed by genetic studies during the neonatal period. Early diagnosis allows organizing a detailed and personalized follow-up, which makes interventions more effective. This has contributed to satisfactory development to date in our patient. These patients present a host of possible complications requiring the coordinated effort of a multidisciplinary medical team from the start, all coordinated by a pediatrician.