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focal dermal hypoplasia; Goltz syndrome
Epidemiology:
- rare
- 90% female
Pathology:
- unilateral or asymmetric skin lesions occur following lyonization of the X chromosome
- ectodermal & mesodermal dysplasia
Genetics:
- due to variants in the PORCN gene at Xp11.23
Clinical manifestations:
- skin manifestations
- telangiectasia
- papilloma
- nodular fat herniation
- linear hypopigmentation &/or hyperpigmentation often following Blaschko lines
- with or without skeletal abnormalities
- ectrodactyly, oligodactyly, osteopathic striae, & syndactyly
- other developmental abnormalities
* image [1]
Management:
- no specific therapy
- symptomatic treatment
- relieve pruritus
- prevent infections
Related
nevoid basal cell carcinoma syndrome; basal cell nevus syndrome; Gorlin-Goltz syndrome
General
skin disease (dermatologic disorder, dermatopathy, dermatosis)
References
- Lee T, Lin My, Lin Z
Focal Dermal Hypoplasia.
JAMA Dermatol. 2023;159(9):998-999.
PMID: 37531122
https://jamanetwork.com/journals/jamadermatology/fullarticle/2808118