| Entry |
|
|---|
| Name |
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal |
|---|
| Supergrp |
46,XX testicular disorder of sex development [DS: H00598] |
|---|
| Description |
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (PPK-SCC) is a form of 46,XX disorder of sex development. It is a rare autosomal recessive disorder caused due to biallelic loss of function mutations in RSPO1 gene. RSPO1 is one of the most important genes controlling female gonadal differentiation.
|
|---|
| Category |
Reproductive system disease
|
|---|
| Brite |
Human diseases [BR:br08402]
Reproductive system diseases
Reproductive system diseases
H02318 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
Skin disorders involving specific cutaneous structures
Disorders of the epidermis and epidermal appendages
Disorders of epidermal keratinisation
ED55 Palmoplantar keratodermas
H02318 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2A Malformative disorders of sex development
H02318 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
|
|---|
| Pathway |
|
|---|
| Gene |
|
|---|
| Other DBs |
|
|---|
| Reference |
|
|---|
| Authors |
Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E, Valentini S, Guerra L, Schedl A, Camerino G |
|---|
| Title |
R-spondin1 is essential in sex determination, skin differentiation and malignancy. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Tallapaka K, Venugopal V, Dalal A, Aggarwal S |
|---|
| Title |
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
