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Inherited skin disorders presenting with poikiloderma

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eMediNexus    02 April 2021

A new article published in the International Journal of Dermatology stated that poikiloderma is a skin condition that combines atrophy, telangiectasia, and macular pigment changes – hypo- as well as hyperpigmentation. It is often mistaken for mottled pigmentation by general practitioners or nondermatology specialists. 

The authors stated that poikiloderma can be a key presenting symptom of Rothmund-Thomson syndrome (RTS), dyskeratosis congenita (DC), hereditary sclerosing poikiloderma (HSP), hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP), xeroderma pigmentosum (XP), Bloom syndrome (BS), Kindler syndrome (KS) and Clericuzio-type poikiloderma with neutropenia (PN). In the above-mentioned conditions, poikiloderma usually commences before the second or third year of life. They may also be associated with photosensitivity and other significant multi-organ manifestation developed later in life. 

This article elaborated that poikiloderma could indicate the presence of a genetic disorder with potentially serious consequences, and almost always precedes more severe manifestations of these genodermatoses. Moreover, early diagnosis could help in preventing complications and mitigating the course of the disease. 

Source: International Journal of Dermatology. 2021 Mar 19. doi: 10.1111/ijd.15498. 

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