Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.

[epidermolysis bullosa simplex]

Epidermolysis bullosa associated with muscular dystrophy is a rare , autosomal recessive form of epidermolysis bullosa simplex caused by mutations in the plectin gene , PLEC 1 . We describe a phenotypically mild case due to compound heterozygous mutations in PLEC 1 (2677 _2685 del and the novel mutation Q 1644 X ). Clinical features included mild skin blistering since birth , slowly progressive and late-onset upper limb -predominant weakness , facial weakness , ptosis , incomplete ophthalmoplegia , and paroxysmal atrial fibrillation .

Diseases
Validation

Diseases presenting "weakness" symptom

achondroplasia

adrenomyeloneuropathy

alexander disease

aniridia

aromatase deficiency

coats disease

congenital toxoplasmosis

epidermolysis bullosa simplex

esophageal adenocarcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

focal myositis

gm1 gangliosidosis

hydrocephalus with stenosis of the aqueduct of sylvius

inclusion body myositis

locked-in syndrome

lymphangioleiomyomatosis

malignant atrophic papulosis

neuralgic amyotrophy

pendred syndrome

pleomorphic liposarcoma

pyomyositis

pyruvate dehydrogenase deficiency

sneddon syndrome

systemic capillary leak syndrome

thoracic outlet syndrome

triple a syndrome

typhoid

von hippel-lindau disease

waldenström macroglobulinemia

werner syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated