UniProtKB/Swiss-Prot

Focal facial dermal dysplasia 4: A form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. Skin defects occur at the sites of facial fusion during embryogenesis, with temporal lesions situated at the junction between the frontonasal and maxillary facial prominences, and preauricular lesions at the meeting point of the maxillary and mandibular prominences. The ectodermal lesions show consistent histologic abnormalities: atrophy and flattening of the epidermis, replacement of the dermis by loose connective tissue, reduced levels of fragmented elastic tissue and absence of the subcutaneous tissues and adnexal structures. FFDD4 is characterized by isolated, preauricular skin lesions.

MalaCards based summary

Focal Facial Dermal Dysplasia 4, also known as ffdd4, is related to focal facial dermal dysplasia 1, brauer type and focal facial dermal dysplasia, and has symptoms including hemiparesis, hydrocephalus and microcephaly. An important gene associated with Focal Facial Dermal Dysplasia 4 is CYP26C1 (Cytochrome P450 Family 26 Subfamily C Member 1). Affiliated tissues include skin.

OMIM

The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFDD4 is characterized by isolated, preauricular skin lesions (summary by Slavotinek et al., 2013). For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (136500). (614974)