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Genodermatoses affecting the nail
Published in Eckart Haneke, Histopathology of the NailOnychopathology, 2017
It is characterized by localized absence of skin at birth or with a thin transparent membrane, through which the underlying structures are visible. In most cases, the scalp is involved, but rarely the distal extremities. In 20%–30%, the underlying bone is also affected.183 Both autosomal dominant as well as recessive inheritance have been reported. Bart syndrome (OMIM132000) is the association of epidermolysis bullosa of various types with skin aplasia and absence or deformity of the nails; it belongs into the epidermolysis bullosa group.184–186 Some other rare syndromes may also be associated with aplasia cutis congenita such as the scalp-ear-nipple syndrome Finlay-Marks (OMIM 181270),187 Adams-Oliver syndrome (OMIM 100300), Johanson-Blizzard syndrome (OMIM 243800), Fryns syndrome (OMIM 194190), dominant deafness and onychodystrophy (OMIM 124480), and nail dystrophy.188–191 The nail itself is not affected by aplasia.
Bart’s Syndrome with Novel Frameshift Mutations in the COL7A1 Gene
Published in Fetal and Pediatric Pathology, 2019
Young Mi Han, Narae Lee, Shin Yun Byun, Sang-Jin Cheon, Hyun-Chang Ko
Epidermolysis bullosa (EB) was first described in 1886 [1] and formally classified by Pearson et al. in 1962, based on transmission electron microscopic features [2]. In 1966, Bart et al. [3] reported a family with congenital localized absence of the skin (CLAS) accompanied by skin and mucous blistering. Since this report, a combination of traits involving aplasia cutis congenita (ACC) with EB and nail abnormalities has been named Bart syndrome. Five international consensus meetings on EB diagnosis and classification have been held since 1988, with the last held in 2013; ultimately, Bart’s syndrome was classified as a subtype of EB [4]. The latest consensus report suggested naming Bart’s syndrome EB with CLAS [5].
Clinical characteristics of mirror syndrome: a retrospective study of 16 cases
Published in Journal of Obstetrics and Gynaecology, 2021
Ruiyun Chen, Min Liu, Jianying Yan, Fengyi Chen, Qing Han, Lianghui Zheng, Yulong Zhang, Jinying Luo, Lichun Chen, Hongfei Liu, Lu Yu
In the mirror syndrome group, the most common aetiology was Bart syndrome (7/16) caused by alpha thalassaemia, which is common in Southeast Asia, where it accounts for 28–55% of non-immune foetal hydrops cases (Norton et al. 2015). One case was associated with foetal arrhythmia, while the aetiologies of the remaining eight cases were unknown.