A Patient With Focal Dermal Hypoplasia Syndrome and Renal Involvement due to a Novel Mutation in the <i>PORCN</i> Gene

Becerra-Solano, Luis Eduardo; Chacon, Liliana; Morales-Mata, Dinorah; Monroy-Marquez, Efrain; López-Muñoz, Eunice; Garcı́a-Ortiz, José Elı́as

doi:10.14740/ijcp277w

Cited by 1 publication

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“…A previous Egyptian female patient with typical clinical features of FDH in addition to myopia and total absence of the dermis was reported by Gammaz et al 23 Our patients shared the common clinical findings with most of the previously reported cases. Interestingly, Patient 1 had broad metaphysis, short broad long bones mainly of both femora and dermal sinus over the sacrum; findings that were infrequently reported in patients with FDH 21,24 . In addition, there was a rightward displaced coccyx and an abnormal hypoplastic left iliac wing of the hip in Patient 1 that can be considered as a part of the associated skeletal asymmetry.…”

Section: Discussionmentioning

confidence: 84%

Two new patients with focal dermal hypoplasia: A novelPORCNvariant and insights on the diagnostic considerations

Elhossini

Abdel‐Hamid

Ashaat

et al. 2022

Congenital Anomalies

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Mutations in the PORCN gene cause an X‐linked dominant condition; focal dermal hypoplasia (FDH), characterized by atrophic skin, pigmented skin lesions in addition to several ocular and skeletal malformations. FDH is rare with around 275 cases reported so far from diverse ethnic groups. Herein, we provide a report of two new patients with FDH from Egypt. In addition to the typical clinical manifestations of the disease, infrequently reported clinical findings in the form of broad metaphysis, bilateral short broad femurs, and dermal sinus over the sacrum were seen in Patient 1 and partial fusion of labia majora, ventral hernia, and bladder extrophy were present in Patient 2. Two heterozygous protein‐truncating PORCN mutations were identified in our patients, a known nonsense c.370C>T p.(Arg124Ter) and a novel frameshift c.375delG p.(Ala126HisfsTer3). Segregation analyses confirmed that the two mutations were “de novo” and not inherited from any of the parents. Our study expands the clinical and mutational spectrum of focal dermal hypoplasia and emphasizes the importance of investigating the different body systems and organs for the early management of patients.

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Section: Discussionmentioning

confidence: 84%