Multiple aplasia cutis congenita type V and fetus papyraceous: a case report and review of the literature

Background Aplasia cutis congenita is regarded as congenital focal absence of skin in the newborn, and occurrence of more than three similar skin defects is rare. The etiology is thought to be multifactorial, and precise etiopathogenesis is unknown. Case presentation A 13-day-old newborn Sri Lankan Tamil girl was referred to the dermatologic clinic with multiple skin defects at birth. There were six lesions on the body, and two of them had healed during intrauterine period, leaving scars. This was a second twin of her pregnancy. Her first twin fetus had demised before 19 weeks of pregnancy and was confirmed to be fetus papyraceous based on ultrasound-guided fetal assessment. The said child was thoroughly investigated and found to have no other congenital abnormalities. Chromosomal studies yielded normal findings. She was treated with tropical antibacterial ointment, and all lesions resolved spontaneously within 4 weeks, leaving scars. Physiotherapy was commenced to prevent contracture formation, and follow-up was arranged in collaboration with the plastic surgical team. Conclusions Aplasia cutis congenita is a rare condition of uncertain etiology, but consanguinity may play a role. This report described a newborn with type V cutis aplasia congenita in whom the diagnosis was confirmed based on clinical features and revision of antenatal history. The management depends on the pattern, extent, location, severity, underlying causes, and associated anomalies.

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

Background Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenotype, the clinical spectrum associated with loss-of-function variation has yet to be fully defined. Case presentation We report on two probands with novel loss-of-function variants in TRIO. Patient 1 presents with a severe neurodevelopmental disorder and macrocephaly. The TRIO variant is inherited from his affected mother. Patient 2 presents with moderate developmental delays, microcephaly, and cutis aplasia with a frameshift variant of unknown inheritance. Conclusions We describe two patients with neurodevelopmental disorder, macro/microcephaly, and cutis aplasia in one patient. Both patients have loss-of-function variants, helping to further characterize how these types of variants affect the phenotypic spectrum associated with TRIO. We also present the third reported case of autosomal dominant inheritance of a damaging variant in TRIO.

Skin

This chapter reviews miscellaneous congenital skin disorders, including albinism, pigmentary dysplasias, and cutis aplasia. Oculocutaneous albinism I is the form of albinism most likely to be diagnosed in the neonate. Other forms present later in infancy or childhood. Prader-Willi syndrome and Angelman syndrome children are frequently hypopigmented due to involvement of the OCA2 locus. Localized hypopigmentation is seen in several forms of Waardenburg syndrome. Cutis aplasia can have a myriad of causes, some benign and others associated with serious chromosomal disorders or syndromes. Pigmentary mosaicism for chromosomal abnormalities or single gene variantschanges cause streaky pigmentarytion changes previously termed hypomelanosis of Ito. Microarray, gene sequencing panels or single gene testing in a tissue other than blood may establish the diagnosis in those syndromes that are mosaic. A clinical case presentation features an infant with oculocutaneous albinism type I.

Expanding the Phenotype of Treacher Collins Syndrome?

Treacher Collins Syndrome (TCS) is a congenital disorder of craniofacial development with variable phenotypic expression. Multiple genes have been implicated in TCS presentation, however most reported cases are caused by mutations in the TCOF1 gene. Here, we provide a description of a male infant with a familial mutation (c.4218dupG) in TCOF1 and concomitant holoprosencephaly (HPE), dysgenesis of the corpus callosum and cutis aplasia. Genetic analysis of common genes associated with HPE revealed a previously unreported variant of uncertain significance in the SIX3 gene but no definitive causal mutation. This is the first known case report of a CNS migrational malformation in TCS

Adams-Oliver syndrome: a case with full expression

Adams-Oliver syndrome (AOS) is characterized by the combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb defects of variable severity. It is believed that Adams-Oliver syndrome without major organ abnormalities does not necessarily alter the normal lifespan. We present a case without detectable major organ abnormality contrary to life but with poor weight gain. A male infant with scalp and skin cutis aplasia, generalized cutis aplasia, dilated veins over scalp and trunk, hypoplastic toes and nails of feet, glaucoma, poor feeding and poor weight gain. This report shows a case of AOS without major multiple organ abnormalities but with poor feeding and abnormal weight gain that may be alter the normal lifespan.