Inherited skin disorders presenting with poikiloderma

Int J Dermatol. 2021 Nov;60(11):1343-1353. doi: 10.1111/ijd.15498. Epub 2021 Mar 19.


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.

Publication types

  • Review

MeSH terms

  • Atrophy / pathology
  • Humans
  • Rothmund-Thomson Syndrome* / complications
  • Rothmund-Thomson Syndrome* / diagnosis
  • Rothmund-Thomson Syndrome* / genetics
  • Skin / pathology
  • Skin Abnormalities* / diagnosis
  • Skin Abnormalities* / genetics
  • Skin Abnormalities* / pathology
  • Skin Diseases, Genetic* / diagnosis
  • Skin Diseases, Genetic* / genetics
  • Skin Diseases, Genetic* / pathology