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Ectodermal dysplasia-skin fragility syndrome

Disease definition

Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.

ORPHA:158668

Classification level: Disorder
  • Synonym(s):
    • McGrath syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q81.0
  • OMIM: 604536
  • UMLS: C1858302
  • MeSH: C536183
  • GARD: 9705
  • MedDRA: -

Summary

Epidemiology

Prevalence is unknown but 11 cases have been reported to date.

Clinical description

Onset of the disease is usually at birth with skin blistering and generalized erythema which rapidly regresses. Skin erosions and crusting are associated with dystrophic nails, hypotrichosis or alopecia with absent or sparse eyelashes and eyebrows, palmoplantar keratoderma with painful fissuring, chronic cheilitis with perioral cracking. Occasionally hair may be woolly rather than reduced. Other variable cutaneous findings and symptoms include follicular hyperkeratosis, perianal erythema and erosions, inflammatory scaly plaques in the flexures, and pruritus. Extracutaneous involvement is usually present, typically with growth retardation, and, in some cases, with recurrent infections, chronic diarrhea, tongue fissuring, and blepharitis.

Etiology

EBS-PD is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1.

Genetic counseling

Transmission is autosomal recessive.

Prognosis

The disease is frequently associated with significant morbidity, but life-expectancy does not seem to be affected.

Expert reviewer(s):  Pr Giovanna ZAMBRUNO - Last update: May 2012

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012) Português (2012)

Detailed information

General public

Guidelines

Disease review articles

Disability

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.