Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO, Kochi, Kerala, 682041, India.
Institute of Human Genetics, University Medical Center, Hamburg-Eppendorf, Hamburg, Germany.
Indian J Pediatr. 2018 Dec;85(12):1067-1072. doi: 10.1007/s12098-018-2632-1. Epub 2018 Jan 31.
To describe the varying phenotypic spectrum of Focal Dermal Hypoplasia (FDH) and to emphasize the need for identifying the condition in mildly affected females which is crucial for offering a prenatal diagnosis in subsequent pregnancy owing to the risk of having a severely affected baby.
The phenotype-genotype correlation of 4 patients with FDH, over a period of 11 y from the genetic clinic in a tertiary care centre from Kerala, India was done.
All four mutation proven patients were females (2 adults and 2 children). One of the adult female subjects were mildly affected, though she had a history of having a severely affected female child who expired on day six. Among the 2 affected children, one of them had an unaffected mother and the other had an affected mother.
FDH has a wide clinical spectrum from very subtle findings to severe manifestations. The lethality of the condition in males and the disfigurement and multisystem involvement in females highlights the importance of confirmation of diagnosis by molecular analysis so that the family can be offered prenatal diagnosis in subsequent pregnancy.
描述局限性真皮发育不全（FDH）的不同表型谱，并强调在轻度受累的女性中识别该疾病的重要性，因为她们在随后的妊娠中存在生育严重受累婴儿的风险，因此需要提供产前诊断。
在印度喀拉拉邦的一家三级保健中心的遗传诊所，对 4 例 FDH 患者进行了为期 11 年的表型-基因型相关性研究。
所有 4 例经基因突变证实的患者均为女性（2 例成年女性和 2 例儿童）。其中 1 例成年女性患者病情较轻，但她曾有过一名严重受累的女婴，该女婴在出生后第 6 天死亡。在 2 例受累儿童中，其中 1 例的母亲未受累，另 1 例的母亲受累。
FDH 的临床表现范围广泛，从非常轻微的表现到严重的表现。男性的致命性和女性的畸形和多系统受累突出了通过分子分析确认诊断的重要性，以便为家族提供随后妊娠的产前诊断。
