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Nonsyndromic congenital nail disorder 8(NDNC8)

MedGen UID:
375277
Concept ID:
C1843761
Disease or Syndrome
Synonym: TOENAIL DYSTROPHY, ISOLATED
 
Gene (location): COL7A1 (3p21.31)
 
Monarch Initiative: MONDO:0011852
OMIM®: 607523

Definition

This form of isolated toenail dystrophy has been found to segregate as an autosomal dominant trait in families in which another member has the autosomal recessive skin disorder dystrophic epidermolysis bullosa (226600) or transient bullous dermolysis of the newborn (131705), the features of which include dystrophic nails. The nail changes in isolated toenail dystrophy are most severe in the great toes and consist of the nail plate being buried in the nail bed with a deformed and narrow free edge (summary by Sato-Matsumura et al., 2002). This form of toenail dystrophy is referred to here as nonsyndromic congenital nail disorder-8 (NDNC8). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050). [from OMIM]

Clinical features

From HPO
Dystrophic toenail
MedGen UID:
318813
Concept ID:
C1833225
Finding
Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.

Recent clinical studies

Etiology

Charng WL, Nikolov M, Shrestha I, Seeley MA, Josyula NS, Justice AE, Dobbs MB, Gurnett CA
J Med Genet 2024 Jun 20;61(7):699-706. doi: 10.1136/jmg-2024-109846. PMID: 38663984Free PMC Article
Zaouak A, Chamli A, Ben Mansour N, Jouini W, Fenniche S, Hammami H
Clin Dermatol 2022 Jul-Aug;40(4):388-394. Epub 2022 Feb 15 doi: 10.1016/j.clindermatol.2022.02.012. PMID: 35181410

Diagnosis

Zaouak A, Chamli A, Ben Mansour N, Jouini W, Fenniche S, Hammami H
Clin Dermatol 2022 Jul-Aug;40(4):388-394. Epub 2022 Feb 15 doi: 10.1016/j.clindermatol.2022.02.012. PMID: 35181410

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