Nail-Patella Syndrome

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Clinical Nail-Patella-Syndrome

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Synonym

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Hereditary osteo onychodysplasia

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Inheritance


Prenatal

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Autosomal dominant; LMX1B gene on 9q34


DNA analysis
Ultrasound

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Incidence

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1:50,000; M=F

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Age at Presentation

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Birth (nail defects); often in childhood

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Pathogenesis

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Mutation in LMX1B gene, encoding for a LIM homeodomain protein involved in dorsal/ventral limb patterning, contributes to phenotype; LMXIB's proximity to COL5A1 (type V collagen is a major component of glomerular basement membrane zones) on 9q34 may help describe how renal and musculoskeletal defects converge in this syndrome

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Clinical

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Nails
Triangular lunulae, micronychia with hernionychia, anonychia, longitudinal fissures (thumb > index finger > other fingers; rare on toes)

Skin
Palmoplantar hyperhidrosis

Musculoskeletal
Absent or hypoplastic patella with secondary pain, gait bnormalities, osteoarthritis, posterior iliac horns, radial head subluxation, thickened scapulae, scoliosis

Kidney
Glomerulonephritis, renal dysplasia, renal failure Eye Lester iris hyperpigmentation of pupillary margin of iris, cataracts, heterochromia irides, glaucoma

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D/Dx

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Anonychia

Lichen planus

idiopathic atrophy

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Lab

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Bone films (knee, elbow, pelvis)
Urinalysis

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Management

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Referral to orthopedist management of knee, elbows; adjust physical activity
Referral to nephrologist manage kidney failure, renal transplant

Referral to dermatologist nail evaluation

Referral to ophthalmologist regular eye examinations

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Prognosis

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Renal disease rarely fatal; osteoarthritis, joint limitation without intervention