Synonym(s): - Hyalinosis cutis et mucosae - Urbach-Wiethe disease
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
ECM1	Q16610	602201

- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal scarring / cheloids / hypertrophic scars
- Acne / acnea
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of tongue, gingiva and oral mucosa
- Autosomal recessive inheritance
- Dermal / subcutaneous infiltration / induration
- Follicular / erythematous / edematous papules / milium
- Pustula / pustulosis
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Thick lips
- Thick skin / pachydermia / orange skin
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

- Dystonia / torticollis / writer's cramp / blepharospasms
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Microglossia / aglossia / hypoglossia / tongue hypoplasia
- Repeat respiratory infections
- Warts / papillomas

- Intracranial / cerebral calcifications
- Nasal polyposis
- Seizures / epilepsy / absences / spasms / status epilepticus