S Bianca, C Ingegnosi, F Bonaffini
Dipartimento di Pediatria, Universit√ di Catania, Catania, Italy. , Italy
Dipartimento di Pediatria, Universit√ di Catania, Catania, Italy.
|How to cite this article:|
Bianca S, Ingegnosi C, Bonaffini F. Harlequin foetus. J Postgrad Med 2003;49:81-2
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Bianca S, Ingegnosi C, Bonaffini F. Harlequin foetus. J Postgrad Med [serial online] 2003 [cited 2023 May 30 ];49:81-2
Available from: https://www.jpgmonline.com/text.asp?2003/49/1/81/921
We report a male with harlequin foetus (HF) a product of consanguineous union. The maternal age was 37 years and paternal age was 42 years. This baby born at 29 weeks of gestation was weighing 1300g at bir th. He died 15 hours after birth. Clinical examination showed the typical features of HF [Figures:1] & [Figure:2] with the presence of plaques with a diamond-like configuration, ear anomalies, severe ectropion and eclabion.
The limbs remained in rigid semi-flexion [Figure:3]. The parents did not consent for autopsy and genetic examinations.
Severe congenital ichthyoses, which are characterized by an intense hyperkeratosis on the whole body of the neonate, include several distinct types. Each type is related to different pathogenetic mechanisms. The classification is still a matter of debate, partly because the mechanisms of pathogenesis are not fully understood.
Harlequin foetus (MIM 242500), with an incidence of about 1 in 300,000 births, is a rare and extremely severe form of congenital ichthyosis. The condition is inherited as an autosomal recessive trait. It is characterized by plaques, measuring up to 4 or 5 cm on a side, that have a diamond-like configuration resembling the suit of a harlequin clown, severe ectropion and eclabion. The skin development is altered in utero; hyperkeratosis of the hair canal occurs in the second trimester and characteristic ultrastructural abnormalities are expressed in the affected fetal epidermis., Affected infants rarely survive beyond the first several weeks of life.
Skin morphological abnormalities reflect a defect of lipid content of lamellar granules: absent or abnormal lamellar granules in the granular cells, lipid droplets in stratum corneum and a lack of extra-cellular lipid lamellae have been reported in HF. Abnormalities in synthesis or metabolism of lipids in the lamellar granules are thought to be responsible for the morphological changes seen with HF and for the lack of desquamation and massive accumulation of scales. Defects of protein phosphatase activity in the epidermis are suggested to be a possible cause leading to the clinical features of HF because protein phosphatase is thought to function both in the processing of profilaggrin, a protein constituent of keratohyalin granules and in the regulation of lipid biosynthesis. It was also suggested that both epithelial and mesenchymal elements of the skin from HF are affected but that the primary abnormality lies in the keratinocytes.
Evidence for recessive inheritance has been provided by several family reports and by parental consanguinity. Moreover, it has recently been suggested that a dominant mutation may possibly be responsible for the disorder and that parental mosaicism for mutations can lead to recurrence in subsequent pregnancies., Our case showed a double consanguinity that provides a strong evidence for a recessive inheritance.
Management of HF involves intensive care of the skin and eyes, close monitoring of fluid and electrolyte status, constant support to and counselling of parents, and surveillance against infections and side effects of medications. A well-coordinated multidisciplinary approach can prolong survival.
Knowledge of the pathogenetic mechanisms is significant for the precise diagnosis, treatment, genetic counselling and prenatal diagnosis.
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