Ectodermal dysplasia skin fragility syndrome
Alternate names
Mcgrath syndrome; Ectodermal dysplasia - skin fragility syndrome; Epidermolysis bullosa simplex due to plakophilin deficiency; Ectodermal dysplasia-skin fragility syndrome
Definition
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS characterized by generalized superficial erosions and less commonly blistering.
Epidemiology
Prevalence is unknown but 11 cases have been reported to date.
Cause
EBS-PD is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1.
Inheritance
Transmission is autosomal recessive.
Signs and symptoms
- 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.
Diagnosis
Treatment
NIH genetic and rare disease info
Ectodermal dysplasia skin fragility syndrome is a rare disease.
Resources
Frequently asked questions
Additional resources | |
|---|---|
Ectodermal dysplasia skin fragility syndrome | |
| About WikiMD |  |
[[Category:]]
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Deepika vegiraju
