Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations

Area of Science:

• Genetics
• Developmental Biology
• Pediatric Oncology

Background:

• Recurrent digital fibroma of infancy is typically a sporadic childhood tumor.
• Congenital malformations present a diagnostic challenge, often overlapping with known genetic syndromes.
• Identifying novel patterns of malformation is crucial for understanding genetic etiologies.

Observation:

• A familial case of recurrent digital fibroma in a mother and daughter with multiple congenital anomalies, including focal dermal hypoplasia, coloboma, anal atresia, and limb malformations.
• Three additional patients presented with multiple digital fibromas, temporal pigmented marks, and limb malformations.
• Clinical features partially overlap with Gorlin-Goltz syndrome (microphthalmia with linear skin defects) and Setleis syndrome but present distinct skin findings.

Findings:

• The described cohort exhibits a unique combination of digital fibromas and congenital malformations not fitting established syndromes.
• Genetic analysis, including fluorescence in situ hybridization for distal Xp deletion, did not reveal the cause in the observed cases.
• The pattern suggests a potentially new syndrome characterized by digital fibromas and a spectrum of congenital anomalies.

Implications:

• This constellation of findings suggests a novel genetic syndrome, expanding the differential diagnosis for infantile fibromas and congenital malformations.
• Further research, including broader genetic analyses, is warranted to elucidate the underlying etiology of this new syndrome.
• Recognition of this pattern can improve diagnostic accuracy and genetic counseling for affected families.