Isolated Congenital Nail Dysplasia

Abstract

Developmental nail abnormalities are extremely heterogeneous, with hereditary isolated conditions being a small and rare subgroup. An unusual congenital nail dysplasia observed in a large South German kindred was characterized clinically to review the question of uniqueness.Design: Case series of affected family members.Setting: University department of dermatology and houses of patients. Patients:The history and clinical features in 22 affected family members (13 females and 9 males, aged 5 to 74 years) were recorded and documented by photographs. Nail biopsy samples were taken from 2 patients. Interventions: None.Results: The pedigree spanning 5 consecutive generations was best compatible with autosomal dominant in-heritance with complete penetrance. Nail alterations were mostly present since birth and soon reached an individually variable degree of severity. Affected persons showed longitudinal streaks and thinning of nail plates, mostly of all fingernails and toenails, with some accentuation of the thumbnail and big toenails, poorly developed lunulae, longitudinal angular ridges of individual nail plates occasionally starting proximally from a reddish prominence, platonychia and koilonychia of individual nails often overgrowing the lateral folds, and notches and fissures of the free margins. Histological abnormalities included a prominent granular layer of the nail matrix and epithelial strands and buds extending from the nail bed. There were no associated anomalies. Other nail dystrophies were excluded by differences in clinical and histological features. Conclusion:The nail abnormality observed in our family represents a new autosomal dominant disorder for which we propose the term isolated congenital nail dysplasia.

Congenital Hyponychia without RSPO4 Mutation

“…Congenital onychodysplasia ofthe index fingers (COIF) was first reported from Japan (4); however, nail changes were not limited to index fingers in our case. Autosomal dominant inheritance was reported in isolated congenital nail dysplasia (5,6). but our case lacked the thinning and longitudinal streaks in the nail plates or small reddish dome-shaped prominence adjacent to the proximal nail fold existing in isolated congenital nail dysplasia.…”

SERPINB11 Frameshift Variant Associated with Novel Hoof Specific Phenotype in Connemara Ponies

“…The only disease association of SERPINB11 is with endometroid ovary carcinoma [ 28 ]. Of the six characterized NDNCs that do not have an associated genetic alteration to date, none map to this region, including isolated congenital onychodysplasia (NDNC7), which phenotypically resembles HWSD with thinning and splitting at the distal nail edge of all finger and toenails [ 8 ]. Of interest, SERPINB11 was identified as a potential candidate gene for adaptive evolution in Yoruba [ 29 ].…”

“…Leukonychia (NDNC3), characterized by white discoloration of the nails, is caused by an alteration in PLCD1 [ 4 ]; Anonychia/hyponychia (NDNC4, absence of hypoplasia of nails) due to an alteration in RSPO4 [ 5 ]; toenail dystrophy (NDNC8), caused by an alteration in COL7A1 [ 6 ] and onychodystrophy (NDNC10), associated with an alteration in FZD6 [ 7 ]. There are currently six NDNCs for which a genetic alteration has not been identified, including isolated congenital onychodysplasia (NDNC7), a disease characterized by longitudinal streaks, thinning and splitting at the distal nail edge of all finger and toenails [ 8 ].…”

Congenital isolated Iso–Kikuchi syndrome in a newborn

“…When inherited, transmission pattern of this condition seems to be autosomal dominant 6 . Genetic loci responsible for the condition are still under investigation: linkage to the known keratin gene clusters on 12q12 and 17q21 has been excluded by Krebsova et al.…”