Epidermolysa bullosa simplex with muscular dystrophy
Alternate names[edit | edit source]
EBS-MD; MDEBS; MD-EBS; Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex - limb girdle muscular dystrophy
Definition[edit | edit source]
Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.
Epidemiology[edit | edit source]
Prevalence is unknown, but more than 40 cases have been reported to date.
Cause[edit | edit source]
- EBS-MD is caused by mutations in the PLEC gene (8q24) encoding plectin.
- Plectin deficiency can be demonstrated in skin and muscle by analysis with specific antibodies.
Inheritance[edit | edit source]
Transmission is autosomal recessive.
Signs and symptoms[edit | edit source]
- Onset of blistering is usually as early as birth, whereas muscular dystrophy manifests between infancy and adulthood. Blisters are often hemorrhagic and heal with mild atrophic scarring and rare milia formation.
- Associated findings comprise markedly dystrophic nails, and focal keratoderma of the palms and soles. Extracutaneous involvement is usually present, including enamel hypoplasia with premature tooth decay, blistering in the oral cavity, pharynx and, rarely, larynx and trachea with inspiratory stridor and breathing difficulties requiring tracheotomy.
- Slowly progressive weakness of the head and limb muscles appears between the first year and the fourth decade of life and may confine the patient to a wheelchair.
- Additional neurological symptoms (ptosis, oculobulbar muscle weakness and fatigability) indicative of a myasthenic syndrome have been described in some patients.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Alopecia(Hair loss)
- Aphasia(Difficulty finding words)
- Dysphasia
- Echolalia(Echoing another person's speech)
- Hyperconvex fingernails
- Hypoplastic fingernail(Small fingernail)
- Muscle flaccidity
- Mutism(Inability to speak)
- Myopathy(Muscle tissue disease)
- Oculomotor nerve palsy
- Ophthalmoplegia(Eye muscle paralysis)
- Skin vesicle
30%-79% of people have these symptoms
- Abnormality of dental enamel(Abnormal tooth enamel)
- Dermal atrophy(Skin degeneration)
- Papule
- Ptosis(Drooping upper eyelid)
5%-29% of people have these symptoms
- Fatigable weakness
- Fatigue(Tired)
Diagnosis[edit | edit source]
Treatment[edit | edit source]
- Supportive care to protect the skin from blistering; use of dressings that will not further damage the skin and will promote healing of open wounds.
- Lance and drain new blisters.
- Dressings involve three layers: a primary nonadherent contact layer; a secondary layer providing stability, adding padding, and absorbing drainage; and a tertiary layer with elastic properties.[1][1].
References[edit | edit source]
- ↑ Pfendner EG, Bruckner AL. Epidermolysis Bullosa Simplex. 1998 Oct 7 [Updated 2016 Oct 13]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1369/
Diseases of the skin and appendages by morphology | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Cytoskeletal defects | ||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
See also: cytoskeletal proteins
|
NIH genetic and rare disease info[edit source]
Epidermolysa bullosa simplex with muscular dystrophy is a rare disease.
Rare and genetic diseases | ||||||
---|---|---|---|---|---|---|
Rare diseases - Epidermolysa bullosa simplex with muscular dystrophy
|
Transform your life with W8MD's budget GLP1 injections from $125 and up biweekly
W8MD offers a medical weight loss program NYC and a clinic to lose weight in Philadelphia. Our W8MD's physician supervised medical weight loss centers in NYC provides expert medical guidance, and offers telemedicine options for convenience.
Why choose W8MD?
- Comprehensive care with FDA-approved weight loss medications including:
- loss injections in NYC both generic and brand names:
- weight loss medications including Phentermine, Qsymia, Contrave, Diethylpropion etc.
- Accept most insurances for visits or discounted self pay cost.
- Generic weight loss injections starting from just $125.00 for the starting dose
- In person weight loss NYC and telemedicine medical weight loss options in New York city available
Book Your Appointment
Start your NYC weight loss journey today at our NYC medical weight loss, and Philadelphia and visit Philadelphia medical weight loss Call (718)946-5500 for NY and 215 676 2334 for PA
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's NYC physician weight loss.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available. Call 718 946 5500.
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, categories Wikipedia, licensed under CC BY SA or similar.
Contributors: Deepika vegiraju