OBSOLETE: Xeroderma pigmentosum complementation group F

Xeroderma pigmentosum complementation group F (XP-F) is a rare autosomal recessive disorder caused by pathogenic variants in the ERCC4 (XPF) gene, which encodes a key endonuclease involved in the nucleotide excision repair (NER) pathway. This Orphanet entry (276264) is designated as OBSOLETE, meaning it has been retired and its clinical content has been merged into a broader or updated classification of xeroderma pigmentosum within the Orphanet database. Patients previously classified under this entry are now typically categorized under the general xeroderma pigmentosum umbrella (Orphanet code 910) or related entries. Xeroderma pigmentosum group F is characterized by extreme sensitivity to ultraviolet (UV) radiation, leading to sunburn with minimal sun exposure, freckling and pigmentary changes in sun-exposed skin beginning in early childhood, and a markedly elevated risk of skin cancers including basal cell carcinoma, squamous cell carcinoma, and melanoma. The skin, eyes, and in some cases the neurological system are primarily affected. Ocular manifestations may include photophobia, conjunctivitis, and corneal opacification. Compared to some other XP complementation groups, XP-F patients may have a milder clinical presentation with later onset of symptoms, though significant variability exists. Mutations in ERCC4 can also cause XFE progeroid syndrome or Fanconi anemia complementation group Q, reflecting the gene's involvement in multiple DNA repair pathways. There is currently no cure for xeroderma pigmentosum group F. Management centers on rigorous UV protection including protective clothing, UV-filtering eyewear, and avoidance of sun exposure. Regular dermatological surveillance for early detection and removal of premalignant and malignant skin lesions is essential. Ophthalmologic monitoring is also recommended. Genetic counseling is advised for affected families.

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