Triangular lunulae. A clue to nail-patella syndrome

Daniel, C. Ralph

doi:10.1001/archderm.116.4.448

Cited by 17 publications

(9 citation statements)

References 4 publications

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“…Absence of thumb nails and patellae with osseous dysplasia is known as the nail-patella syndrome. Many nail changes have been described in this condition, including anonychia, koilonychia, and pterygium; nonspecific cracking and splitting are probably the most common findings, A triangular lunula, if present, is highly suggestive of this condition (10), The toenails also may be affected (in,…”

Section: Anonychiamentioning

confidence: 99%

Diseases of the Nails in Children

Barth

Dawber

1987

Pediatric Dermatology

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The nails have numerous functions ranging from cosmetic adornment to tools. Their most important function is to splint the soft pulp of the terminal phalanx to aid fine grasp and manipulation, which may be impaired by a deformed or damaged nail. This review of nail diseases begins with an account of the embryology, anatomy, and physiology of the nail. The presentation of the sections of diseases is somewhat arbitrary as there is at present no satisfactory classification of nail disease.

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Section: Anonychiamentioning

confidence: 99%

Diseases of the Nails in Children

Barth

Dawber

1987

Pediatric Dermatology

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“…In a retrospective study of 123 cases of NPS reported in the literature by Meyrier et al, 60% of patients presented with non-nephrotic range proteinuria. The proteinuria may remain asymptomatic, remit spontaneously, or may progress to nephrotic syndrome in less than 20% of the patients [8,10,11]. In this study, 15% of the patients progressed to ESRD.…”

Section: Discussionmentioning

confidence: 64%

Renal involvement in nail-patella syndrome: report of three cases

2009

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“…NPS is a rare autosomal dominant disorder characterized by a broad spectrum of clinical manifestations with variable presentation 2‐5 . The “classic” tetrad includes patellar or elbows dysplasia, presence of iliac horns and nail dystrophy 2,3 .…”

Section: Discussionmentioning

confidence: 99%

A novel mutation in LMX1B gene in a newborn with nail‐patella syndrome: Clinical and dermoscopic findings

Tognetti

Baldassarri

Fava

et al. 2020

Pediatric Dermatology

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We report on a 3-month-old female patient presenting with bilateral anonychia of the thumbnails and hyponychia of the index nails. Clinico-dermoscopic examination revealed triangular lunulae in all fingernails. Sequence analysis of LMX1B gene identified a novel heterozygous de novo mutation within exon 2, pathogenetic for a nail-patella syndrome. Pediatric Dermatology anterior segment of the eye, dopaminergic neurons in the central nervous system, and renal podocytes in the glomerular basement membrane. Heterozygous loss-of-function mutations in LMX1B can cause pleiotropic NPS phenotype (OMIM 161200). 2,3 In our patient, nail dermoscopy allowed us to better characterize the lamina structure with ridging and the lunulae morphology, and the tip reached half the length of the nail plate. The de novo mutation detected in our patient has not been described before. However, Dunston et al reported that the substitution of the same cysteine residue with a serine as a pathogenetic variant of NPS. 3 Further studies with a larger cohort of patients are needed to establish genotype: phenotype correlations and to confirm whether this mutation is associated with a mild phenotype with a predominant or exclusive nail involvement as in our patient. Collaboration between pediatricians, geneticists, and dermatologists is needed to promptly identify characteristic nail changes suggestive of NPS to ensure proper workup, specifically early detection of renal involvement.

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Triangular lunulae. A clue to nail-patella syndrome

Cited by 17 publications

References 4 publications

Diseases of the Nails in Children

Diseases of the Nails in Children

Renal involvement in nail-patella syndrome: report of three cases

A novel mutation in LMX1B gene in a newborn with nail‐patella syndrome: Clinical and dermoscopic findings

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