ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
Nagashima-type palmoplantar keratosis
Print
Other Resources UpToDate PubMed

Nagashima-type palmoplantar keratosis

Print Images (1)
Contributors: Tyler Werbel, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Nagashima palmoplantar keratosis (NPPK) is a rare nonsyndromic genetic dermatosis that was first described in 1977. The disease affects both sexes equally and almost exclusively affects people of Asian ethnicity. There is an estimated prevalence of 1.2:10 000 in Japanese populations and 3.1:10 000 in Chinese populations.

This condition has been linked to loss of function mutations in the serine protease inhibitor (serpin), class B, member 7 (SERPINB7) gene. Most cases demonstrate an autosomal recessive inheritance pattern, but autosomal dominant cases have been reported. The pathophysiological mechanism of this disorder remains poorly understood. However, it is hypothesized that mutation of the SERPINB7 gene leads to serine protease overactivity in the stratum corneum. This results in structural degradation of the epidermis, enabling transepidermal water permeation.

NPPK typically presents within the first year of life with a nonprogressive, erythematous, well-demarcated palmoplantar hyperkeratosis that extends to the dorsal surfaces of the hands and feet and often involves the area of the Achilles tendon. Involvement of the elbows and knees is not uncommon. Affected areas frequently demonstrate hyperhidrosis. On exposure to water, patients may report a whitish, spongy change to the lesions.

NPPK is frequently complicated by malodorous maceration with recurrent tinea infections. However, unlike other palmoplantar keratodermas (PPKs), individuals with NPPK usually only have mild hyperkeratosis. Moreover, they do not develop flexion contractures or constricting bands.

For more information, see OMIM.

Codes

ICD10CM:
Q82.8 – Other specified congenital malformations of skin

SNOMEDCT:
722205008 – Palmoplantar keratoderma Nagashima type

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Inherited diffuse PPKs:
  • Mal de Meleda – progressive course, flexion contractures, SLURP1 mutation
  • Gamborg-Nielsen type PPK – hyperkeratosis is thicker, no hyperhidrosis, only localizes to knuckle pads
  • Acral keratoderma – hyperkeratosis is thicker, no hyperhidrosis
  • Vörner type PPK – autosomal dominant inheritance, no hyperhidrosis, epidermolytic hyperkeratosis, KRT1 mutation
  • Unna-Thost type PPK – autosomal dominant inheritance, no hyperhidrosis, KRT1 mutation
  • Greither type PPK – autosomal dominant inheritance, onset at age 8-10, KRT1 mutation
  • Sybert type PPK – autosomal dominant inheritance, hyperkeratosis is thicker, no hyperhidrosis
  • Bothnian type PPK – autosomal dominant inheritance, AQP5 mutation
  • Naxos disease – associated with hair defect and cardiomyopathy
Acquired diffuse PPKs:
  • Keratoderma climactericum – Seen in menopausal women, often associated with obesity or hypertension; pressure points on the soles of the feet are affected first.
  • Malnutrition-associated PPK
  • Paraneoplastic PPK – Acrokeratosis paraneoplastica of Bazex is associated with squamous cell carcinoma of the upper gastrointestinal tract, and "tripe palms" is associated with pulmonary or gastric malignancies. Other malignancies with associated paraneoplastic PPK include breast, bladder, and skin malignancies, myeloma, mycosis fungoides, and Sézary syndrome.

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed: 06/12/2018
Last Updated: 06/12/2018
Copyright © 2019 VisualDx®. All rights reserved.
Nagashima-type palmoplantar keratosis
Print 1 Images
Nagashima-type palmoplantar keratosis : Hyperhidrosis, Knees
Copyright © 2019 VisualDx®. All rights reserved.