An unusual case of keratinopathic icthyosis: a diagnostic conundrum

Shajil, Chandana; Sathishkumar, Dharshini; Danda, Sumita; Thomas, Meera

doi:10.5070/d327654054

Cited by 3 publications

(2 citation statements)

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“…The port-wine stain is a non-neoplastic hamartomatous proliferation of capillaries resulting in nodular growth, as a result of ectatic blood vessels [ 2 , 9 - 12 ]. A port-wine stain clinically presents from birth and such lesions do not regress or undergo involution over a period of time.…”

Section: Discussionmentioning

confidence: 99%

“…Port-wine stains do not undergo regressive changes, unlike other haemangiomas such as salmon patches, which undergo involution or regressive changes by the formation of fibrous scar or fine telangiectasia on the surface of the skin where they occur. Some persist as nodular growth due to the presence of ectatic blood vessels in them [ 2 ]. Dysregulation of vascular mitogen-activated protein kinase (MAPK) and/or phosphoinositide 3-kinase (PI3K) signalling during human embryonic development, as well as somatic mutations of GNAQ and P13K , play a role in the pathogenesis and progression of Port Wine Stain [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

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Concurrent Occurrence of Lobular Capillary Haemangioma and Port-Wine Stain: A Case Report and Literature Review

Priya¹,

Mohan²,

Thangavelu³

et al. 2023

Cureus

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A port-wine stain is a type of non-neoplastic hamartomatous malformation of capillary blood vessels, resulting from ectatic capillaries present from birth. Lobular capillary hemangioma is a form of capillary hemangioma that occurs from hamartomatous malformation of capillaries. In our report, we discuss the rare case of both port-wine stain and capillary haemangioma on the gingiva in a 22- year-old young male.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Concurrent Occurrence of Lobular Capillary Haemangioma and Port-Wine Stain: A Case Report and Literature Review

Priya¹,

Mohan²,

Thangavelu³

et al. 2023

Cureus

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Un caso inusual de hiperqueratosis epidermolítica diseminada

Rojas Meza,

Atoche Vargas,

Zafra Saldaña

et al. 2024

Piel

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Abordaje de las genodermatosis desde la medicina de precisión: reporte de casos

Zúñiga-Espitia,

Moreno Giraldo,

Satizábal Soto

2024

rev. asoc. colomb. dermatol. cir. dematol.

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La ictiosis epidermolítica (EI), una enfermedad genética autosómica dominante que hace parte de las ictiosis queratinopáticas (KPI) (1). Afecta a 1 de cada 200.000 a 300.000 recién nacidos, como resultado de una variante en el gen KRT1 o KRT10 que codifica la queratina 1 y 10 respectivamente; proteinas presentes en los queratinocitos de las capas suprabasales de la epidermis, donde forman haces tonofibrilares y juntas son marcadores tempranos de diferenciación celular (2). Los pacientes al nacimiento presentan eritrodermia y ampollas, como consecuencia de la fragilidad del citoesqueleto de las células epidérmicas y el colapso de los filamentos de queratina. Los cambios cutáneos con el tiempo evolucionan a hiperqueratosis (3). Se presentan dos casos de pacientes con EI, en los que el estudio genético jugó un papel importante en el diagnóstico específico, a fin de instaurar un tratamiento dirigido, establecer pronóstico y riesgo de heredabilidad, acercándonos a la medicina de precisión.

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An unusual case of keratinopathic icthyosis: a diagnostic conundrum

Cited by 3 publications

References 0 publications

Concurrent Occurrence of Lobular Capillary Haemangioma and Port-Wine Stain: A Case Report and Literature Review

Concurrent Occurrence of Lobular Capillary Haemangioma and Port-Wine Stain: A Case Report and Literature Review

Un caso inusual de hiperqueratosis epidermolítica diseminada

Abordaje de las genodermatosis desde la medicina de precisión: reporte de casos

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