Nail-patella syndrome Q87.23

Author: Prof. Dr. med. Peter Altmeyer

Last updated on: 28.01.2021

Synonym(s)

Arthroosteoonychodysplasia; Austrian Syndrome; hereditary osteo-onychodysplasia; HOOD; nail-patella-elbow syndrome; nail-patella syndrome; Onychardrosis hereditaire; Osteo-Arthro-Onycho-Dysplasia; Osteo-Onycho-Dysostosis; osteoonychodysplasia hereditaria; Pelvic Horns Syndrome; Turner-Kieser Syndrome

History
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Chatelain, 1820; Little, 1897

Definition
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Autosomal dominant inherited osteo-arthro-onycho-dystrophy with typical involvement of fingernails and knee joints as well as other bone deformities (pelvic horns), involvement of the urogenital system and the eyes.

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Dermatology

Lichen planus of the capillitium: several atrophic plaques with discrete hair thinning.

Lichen planus (overview)

Non-contagious, acute, subacute to chronic, markedly pruritic, self-limited (duration of disease between 1 ...

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Occurrence/Epidemiology
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Incidence: 1/50-250.000 inhabitants.

Etiopathogenesis
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Autosomal dominant with variable expression inherited mutations of the nail-patella syndrome 1 gene (NPS1 gene; gene locus: 9q34.1) with consecutive defects of collagen synthesis.

Clinical features
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Nails: Anonychia, hyponychia, onychoschisis, triangular lunula. Affected are mainly thumb and index finger nails; toe nails are almost always normal.

Bones and joints: aplasia or hypoplasia with subluxation of the patella, hypoplasia of the radial head, subluxation of the radius, exostosis-like pelvic horns (Fong's symptom), scapular hypoplasia, scoliosis, genu valgum, pes equinovarus.

Genitourinary system (40ige involvement): renal dysplasias, ureteral duplication, nephrotic syndrome, Goodpasture's syndrome, renal failure, chronic pyelonephritis.

Eyes: Heterochromic iris, glaucoma, microcornea.

Histology
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Kidney biopsy: Thickening of the glomerular basement membrane by collagen fibrils.

Therapy
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Nail infestation serves as a diagnostic sign. Therapeutically, orthopaedic, ophthalmological and nephrological clarification and treatment of the respective symptom complex is carried out.

Progression/forecast
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No change.

Literature
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Beguiristain JL et al (2003) Nail-patella syndrome: long term evolution. J Pediatric orthopaedic surgeon B 12: 13-16
Bongers EM et al (2002) Nail-patella syndrome. Overview on clinical and molecular findings. Pediatric Nephrol 17: 703-712
Burkhart CG et al (1980) Nail-patella syndrome. J Am Acad Dermatol 3: 251-256
Little EM (1897) Congenital absence or delayed development of patella.
Lancet (London) 2: 781-784
Nowak C (1979) Turner-Kieser syndrome. Dermatologica 3: 576-577
Ogden JA et al (2002) Nail patella syndrome. A 55-year follow-up of the original description. J Pediatric orthopaedic surgeon B 11: 333-338
Austrian W (1929) Nail and skeleton anomalies. Viennese clin weekly 43: 632
Protas-Dozd F et al (1979) Nail-Patella Syndrome. Dermatologica 3: 575-576
Schulz-Butulis BA et al (2003) Nail-patella syndrome. J Am Acad Dermatol 49: 1086-1087
Trauner R, Rieger H (1925) A family with 6 cases of dislocation radii congenita with consistent anomalies of the finger and knee joints and nail formation in 4 generations. Arch klin Chir (Berlin) 137: 659-666