Progressive symmetric erythrokeratodermia

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Progressive symmetric erythrokeratodermia
Classification and external resources
OMIM 133200
DiseasesDB 32838

Progressive symmetric erythrokeratodermia (also known as "Erythrokeratodermia progressiva symmetrica") is a rare, autosomal dominant skin condition that manifests soon after birth with erythematous, hyperkeratotic plaques that are symmetrically distributed on the extremities, buttocks, and face, but sparing the trunk.[1]:565 No other clinical symptoms nor mental or physical signs are usually associated with the condition.[2]

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.

Clinical[edit]

Skin plaques start to appear as reddened areas of inflammation, thus often leading to the mistaken diagnosis of Atopic Dermatitis. Following inflammation, the red areas start keratinization, eventually forming the definitive plaques that appear brownish, dry and scaled. Following quite a precise temporal pattern of evolution, the keratinized plaques last for weeks or months, eventually leading to periods of desquamation that leads to the uncovering of "normal" skin. Then, a new cycle usually begins, leaving a variable number of days of delay between the cycles.

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.

Differential diagnosis[edit]

This includes erythrokeratodermia variabilis and loricrin keratoderma

Treatment[edit]

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.

Genetics[edit]

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.

Two other reports suggest that isotretinoin may be of use.[4][5]

History[edit]

This condition was described by Darier in 1911. It was given its present name by Grotton in 1923.

See also[edit]

References[edit]

  1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  2. ^ Kan; Chung-Hong, Hu; Woan-Ruoh, Lee (2003). Shu-Feng' Progressive Symmetric Erythrokeratodermia - A case report. Dermatol Sinica, June 2003.
  3. ^ 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 SJ8, 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
  4. ^ 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
  5. ^ 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