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Erythrokeratodermia variabilis in Infant/Neonate
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Erythrokeratodermia variabilis in Infant/Neonate

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Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
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Synopsis

Erythrokeratodermia variabilis (EKV) is a rare, worldwide genetic skin disorder within a heterogeneous group of erythrokeratodermas. It is also known as Mendes da Costa syndrome. Over 200 cases have been reported, usually with an autosomal dominant inheritance pattern. EKV is characterized by hyperkeratosis and transient erythema. It is due to mutations of connexin genes; connexins are constituents of the intercellular channels called gap junctions. Over half of patients present with symptoms at or soon after birth, and 90% within the first year of life.

Initial migratory plaques of erythema last minutes to weeks; these may be exacerbated by trauma or temperature change. Fixed plaques of erythema with or without hyperkeratosis also occur. Half of patients have a peeling palmoplantar keratoderma. The disorder progresses through childhood, stabilizes after puberty, and may regress as the patient ages.

Periodic improvement may occur, sometimes noted after prolonged sun exposure. Worsening has been seen in pregnancy and with oral contraceptive use. Health is otherwise normal. The patient may complain of burning, stinging, or itching.

For more information, see OMIM.

Codes

ICD10CM:
L53.8 – Other specified erythematous conditions

SNOMEDCT:
70041004 – Erythrokeratodermia variabilis

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Other connexin defects may have associated deafness, so it is important to evaluate hearing with testing if there is any clinical suspicion of decreased hearing.
  • Psoriasis
  • Netherton syndrome presents with associated hair abnormality.
  • Outshoorn disease presents with keratolytic winter erythema.
  • KID syndrome (keratitis, ichthyosis, deafness)
  • Progressive symmetric erythroderma (atrophic dermal papules of dermatomyositis [formerly called Gottron papules]) – In this, the plaques are fixed.
  • Giroux-Barbeau syndrome presents with erythrokeratoderma and ataxia.
  • Greither disease typically has later onset erythrokeratoderma of hands / knees / elbows.
  • Schnyder syndrome has asymmetric erythrokeratoderma with deafness, peripheral neuropathy, muscle atrophy, and intellectual disability.

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Last Updated: 10/30/2018
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Erythrokeratodermia variabilis in Infant/Neonate
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Erythrokeratodermia variabilis : Confluent configuration, Serpiginous configuration, Thickened skin, Fine scaly plaques
Clinical image of Erythrokeratodermia variabilis
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