Progressive symmetric erythrokeratodermia
Progressive symmetric erythrokeratodermia | |
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Other names | Erythrokeratodermia progressiva symmetrica |
Progressive symmetric erythrokeratodermia is a rare,
This condition is also known as Darier-Gottron syndrome, progressive symmetric erythrokeratoderma, progressive symmetric erythrokeratodermia of Gottron and erythrokeratodermia variabilis et progressiva.
Less than one hundred cases have been reported to date.
Genetics
A mutation in the KDSR gene has been reported to be associated with this condition.[3] This gene encodes 3-ketodihydrosphingosine reductase, an enzyme in the ceramide synthesis pathway. The authors also reported that the use of systemic isotretinoin resulted in almost complete resolution of the lesions in two cases.[citation needed]
Two other reports suggest that isotretinoin may be of use.[4][5]
Mechanism
Skin plaques start to appear as reddened areas of inflammation, thus often leading to the mistaken diagnosis of
Though environmental causes are not well understood, it seems clear that factors like sun exposure, wind and air conditioning add to the degree of skin inflammation that sets the start of a new cycle.[citation needed]
Diagnosis
Differential diagnosis
This includes erythrokeratodermia variabilis and loricrin keratoderma
Treatment
Definitive treatment does not exist at the moment. Palliative treatment are intended to alleviate the itching that often accompanies the skin inflammation and to moisture the dry skin to prevent excessive dryness and scaling of the plaques.[citation needed]
History
This condition was described by Darier in 1911. It was given its present name by Grotton in 1923.
See also
- Skin lesion
- List of cutaneous conditions
- List of cutaneous conditions caused by mutations in keratins
References
- ISBN 0-7216-2921-0.
- ^ Kan; Chung-Hong, Hu; Woan-Ruoh, Lee (2003). Shu-Feng' Progressive Symmetric Erythrokeratodermia - A case report. Dermatol Sinica, June 2003.
- ^ Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA (2017) Mutations in KDSR cause recessive progressive symmetric erythrokeratoderma. Am J Hum Genet 100 (6) 978-984. doi: 10.1016/j.ajhg.2017.05.003
- ^ de Mello Guaraldi B, Jerez Jaime T, de Mello Guaraldi R, Fernandes Melo D, Maris Nogueira O, Rodrigues N (2013) Progressive symmetrical erythrokeratodermia - case report. An Bras Dermatol 88 (1) 109–112. doi:10.1590/S0365-05962013000100016
- ^ Yan H-B, Zhang J, Liang W, Zhang H-Y, Liu J-Y (2011) Progressive symmetric erythrokeratoderma: Report of a Chinese family. 77 (5) 597-60