| Entry |
|
|---|
| Name |
Restrictive dermopathy |
|---|
| Description |
Restrictive dermopathy (LD) is a rare, lethal autosomal recessive genodermatosis caused by mutations in either LMNA or ZMPSTE24. Manifestations include a tight, thin, translucent skin, typical face, multiple joint contractures, enlarged fontanelles, and dysplasia of clavicles.
|
|---|
| Category |
Congenital malformation
|
|---|
| Brite |
Human diseases [BR:br08402]
Congenital malformations
Congenital malformations of skin
H00663 Restrictive dermopathy
Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
Skin disorders involving specific cutaneous structures
Disorders of the dermis and subcutis
Disorders of cutaneous connective tissue
Fibromatoses and keloids
EE6Y Other specified fibromatous disorders of skin and soft tissue
H00663 Restrictive dermopathy
|
|---|
| Pathway |
| hsa00900 | Terpenoid backbone biosynthesis |
|
|---|
| Gene |
|
|---|
| Other DBs |
|
|---|
| Reference |
|
|---|
| Authors |
Morais P, Magina S, Ribeiro Mdo C, Rodrigues M, Lopes JM, Thanh Hle T, Wehnert M, Guimaraes H |
|---|
| Title |
Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Mau U, Kendziorra H, Kaiser P, Enders H |
|---|
| Title |
Restrictive dermopathy: report and review. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Verloes A, Mulliez N, Gonzales M, Laloux F, Hermanns-Le T, Pierard GE, Koulischer L |
|---|
| Title |
Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
