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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.
KCTD1 and Scalp-Ear-Nipple (‘Finlay–Marks’) syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains
Published in Ophthalmic Genetics, 2023
Dongmao Wang, Paul Trevillian, Stephen May, Peter Diakumis, Yanyan Wang, Deb Colville, Melanie Bahlo, Una Greferath, Erica Fletcher, Barbara Young, Heather G. Mack, Judy Savige
Scalp-Ear-Nipple (SEN, Finlay-Marks, OMIM 181,270) syndrome is a rare ectodermal dysplasia, with about 30 families reported worldwide, that is characterised by a scalp defect, abnormal ears and rudimentary breasts and nipples (3). Clinical features in Scalp-Ear-Nipple syndrome are highly penetrant and usually evident from birth. The posterior scalp defect heals in infancy with a scar. The external ears are small and dysplastic, and the superior helix is often everted. Hearing may be impaired. The breasts do not develop, and lactation is not possible. There may be partial webbing of some digits, dystrophic nails, sparse secondary hair, and reduced sweating. The upper central incisors are widely spaced. Ocular abnormalities have been described only occasionally and include myopia, coloboma, and cataracts (1,4). Renal abnormalities reported include cysts (5), pelviureteric reflux or duplication (2), and unilateral or bilateral hypoplasia or unilateral agenesis (1,6). Proteinuria and hypertension are common, and end-stage kidney failure occurs. However, many clinical reports are of children where the renal phenotype is not yet apparent.