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Darier disease: Current insights and challenges in pathogenesis and management.
J Eur Acad Dermatol Venereol
November 2024
Department of Dermatology and Venereology, Kepler University Hospital Linz, Linz, Austria.
Darier disease is a rare autosomal dominant genodermatosis caused by mutations in the ATP2A2 gene encoding for sarcoendoplasmic reticulum Ca ATPase isoform 2. The skin disease is characterized by a chronic relapsing course with recurrent reddish-brown keratotic papules and plaques located mainly in seborrhoeic areas. Due to chronic inflammation and epidermal barrier defects of the skin, patients often develop severe bacterial and viral superinfections.
View Article and Find Full Text PDFSegmental Darier's Disease Treated With Cryotherapy.
Cureus
October 2024
Dermatology, Lehigh Valley Health Network, Allentown, USA.
Darier's disease is characterized by pruritic keratotic papules resulting from dysfunctional keratinocyte adhesion. Segmental Darier's is a rare variant thought to be caused by a post-zygotic somatic mutation. The mainstay of treatment consists of oral and topical retinoids and corticosteroids.
View Article and Find Full Text PDFLong-Standing Remission After Tildrakizumab Treatment in a Case of Refractory Type I Pityriasis Rubra Pilaris in a Breast Cancer Patient.
Clin Cosmet Investig Dermatol
October 2024
Dermatology Unit, Azienda Unità Sanitaria Locale- IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Pityriasis rubra pilaris (PRP) is a rare chronic inflammatory skin disease characterised by follicular keratotic papules and perifollicular erythema coalescing into orange-red scaly plaques, and palmoplantar keratoderma. Characteristic islands of sparing are usually observed. A standardised therapeutic approach is lacking owing to the infrequent occurrence of this disease.
View Article and Find Full Text PDFDermatological Enigma Unveiled: A Rare Case Report on Dowling-Degos Disease.
Int J Appl Basic Med Res
August 2024
Department of Microbiology, AIIMS, Rajkot, Gujarat, India.
Article Synopsis
- * It can resemble other skin disorders but is distinguishable by its unique histopathological features.
- * Diagnosis may require a biopsy, as seen in a case where a 50-year-old female was confirmed to have DDD despite no family history or abnormal lab tests, highlighting the need for awareness of rare skin conditions in medical evaluations.
Familial Reactive Perforating Collagenosis with Adolescence-Onset: A Rare Case Report and Literature Review.
Clin Cosmet Investig Dermatol
August 2024
Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran - Dr. Hasan Sadikin General Hospital, Bandung, West Java, Indonesia.
Article Synopsis
- - Familial Reactive Perforating Collagenosis (FRPC) is a rare, benign skin condition primarily seen in young children, with fewer than 50 documented cases, and its causes and treatments remain unclear.
- - A case study of a 20-year-old male from Indonesia showed multiple skin papules across his body for over 7 years, and similar symptoms were present in his family.
- - The patient was successfully treated with a topical corticosteroid, desoximetasone, leading to significant improvement in skin lesions, suggesting corticosteroids could be a viable treatment for FRPC.
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