Table 3.

Disorders with Nail Dysplasia in the Differential Diagnosis of Dyskeratosis Congenita and Related Telomere Biology Disorders (DC/TBD)

GeneDisorderMOIClinical CharacteristicsComment
FZD6 Twenty-nail dystrophy (OMIM 161050)AROnychauxis, hyponychia, & onycholysisNonsyndromic nail disorder
LMX1B Nail-patella syndrome ADClassic clinical tetrad of changes in nails, knees, & elbows, & presence of iliac hornsNails may be absent, hypoplastic, or dystrophic; ridged longitudinally or horizontally; pitted; discolored; separated into 2 halves by longitudinal cleft or ridge of skin; & thin or (less often) thickened.
USB1 Poikiloderma with neutropenia ARPost-inflammatory poikiloderma & chronic noncyclic neutropenia typically assoc w/recurrent sinopulmonary infections & (often) bronchiectasis. ↑ risk for myelodysplastic syndrome. Other findings incl nail dystrophy & palmar/plantar hyperkeratosis.Thickened, hyperkeratotic toenails are common; dystrophic nails that can slough may also be seen.

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance

From: Dyskeratosis Congenita and Related Telomere Biology Disorders

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