Inherited skin disorders presenting with poikiloderma

Rayinda, Tuntas and van Steensel, Maurice and Danarti, Retno (2021) Inherited skin disorders presenting with poikiloderma. International Journal of Dermatology, 60 (11). 1343 – 1353. ISSN 00119059

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Abstract

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. 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 these conditions, poikiloderma starts early in life, usually before the second or third year. They may also be associated with photosensitivity and other significant multi-organ manifestation developed later in life. Poikiloderma could indicate the presence of a genetic disorder with potentially serious consequences. Poikiloderma almost always precedes more severe manifestations of these genodermatoses. Prompt diagnosis at the time of presentation could help to prevent complications and mitigate the course of the disease. This review discusses these to help the practicing clinician manage patients presenting with the symptom. To further facilitate early recognition, this paper also proposes a simple diagnostic algorithm. © 2021 the International Society of Dermatology.

Item Type: Article
Additional Information: Cited by: 8
Uncontrolled Keywords: Atrophy; Humans; Rothmund-Thomson Syndrome; Skin; Skin Abnormalities; Skin Diseases, Genetic; algorithm; Bloom syndrome; Clericuzio type poikiloderma with neutropenia; clinical practice; clinician; diagnostic test; differential diagnosis; disease association; disease severity; dyskeratosis congenita; early diagnosis; genetic disorder; genodermatosis; hereditary fibrosing poikiloderma with tendon contracture myopathy and pulmonary fibrosis; hereditary sclerosing poikiloderma; human; hyperpigmentation; hypopigmentation; lung fibrosis; medical specialist; myopathy; neutropenia; patient care; photosensitivity; poikiloderma; practice guideline; Review; Rothmund Thomson syndrome; skin atrophy; skin disease; skin examination; symptom; telangiectasia; tendon contracture; xeroderma pigmentosum; atrophy; complication; congenital skin disease; genetics; pathology; Rothmund Thomson syndrome; skin
Subjects: R Medicine > RL Dermatology
Divisions: Faculty of Medicine, Public Health and Nursing > Biomedical Sciences
Depositing User: Sri JUNANDI
Date Deposited: 28 Sep 2024 04:10
Last Modified: 28 Sep 2024 04:10
URI: https://ir.lib.ugm.ac.id/id/eprint/4469

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