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International Journal of Dermatology Nov 2021Poikiloderma is a skin condition that combines atrophy, telangiectasia, and macular pigment changes (hypo- as well as hyperpigmentation). It is often mistaken for... (Review)
Review
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.
Topics: Atrophy; Humans; Rothmund-Thomson Syndrome; Skin; Skin Abnormalities; Skin Diseases, Genetic
PubMed: 33739439
DOI: 10.1111/ijd.15498 -
Journal of the American Academy of... Sep 2013"Poikiloderma" is a morphologic and descriptive term referring to a combination of cutaneous atrophy, telangiectasia, and varied macular pigmentary changes that result... (Review)
Review
"Poikiloderma" is a morphologic and descriptive term referring to a combination of cutaneous atrophy, telangiectasia, and varied macular pigmentary changes that result in a mottled skin appearance. Its etiology includes both congenital and acquired causes. Many studies have reported different causes of acquired poikiloderma; however, no single well-defined classification has been explored to date. Herein, we analyze all the possible causes of acquired poikiloderma and propose an etiological classification that, hopefully, will lead to better characterization for this ill-defined condition. Moreover, this study presents a step-by-step approach to the management of patients with acquired poikiloderma and summarizes the key differentiating features for each individual cause, which may help in easy and precise diagnosis of different causes of acquired poikiloderma.
Topics: Atrophy; Humans; Pigmentation Disorders; Skin; Telangiectasis
PubMed: 22846690
DOI: 10.1016/j.jaad.2012.06.015 -
Dermatology (Basel, Switzerland) 2003
Topics: Adolescent; Adult; Age Factors; Biopsy, Needle; Child; Child, Preschool; Diagnosis, Differential; Female; Humans; Immunohistochemistry; Lupus Erythematosus, Cutaneous; Male; Prognosis; Risk Assessment; Rothmund-Thomson Syndrome
PubMed: 14571062
DOI: 10.1159/000073082 -
Pediatric Dermatology Jan 2023Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a genodermatosis with autosomal dominant inheritance caused by... (Review)
Review
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a genodermatosis with autosomal dominant inheritance caused by mutations in FAM111B. We report another case with a new pathogenic variant and analyze all previously published 34 cases with a focus on sequence of clinical presentation and genotype-phenotype correlation. POIKTMP is characterized by marked age-dependent clinical expressivity. FAM111B encodes a catalytic nuclear protein, expressed in many tissues, which contributes to impaired DNA repair affecting multiple systems. Specific inhibition of catalytic activity might be a future strategy to halt progression of this otherwise untreatable disease. Given the relentless progression of the disease, it would make sense to start such treatment as early as possible. In order to achieve this objective, children with suspected POIKTMP should therefore undergo early imaging of all relevant organ systems.
Topics: Humans; Pulmonary Fibrosis; Cell Cycle Proteins; Contracture; Mutation; Atrophy; Tendons; Phenotype
PubMed: 36102338
DOI: 10.1111/pde.15133 -
Archives of Dermatology Oct 1971
Topics: Adult; Humans; Male; Phenolphthaleins; Skin Diseases
PubMed: 5114430
DOI: 10.1001/archderm.104.4.450 -
Journal of Pediatric Hematology/oncology May 2014Poikiloderma with neutropenia (PN, OMIM 604173) is a rare autosomal-recessive genodermatosis. Mutations in the C16orf57 gene have been recently identified as the cause.... (Review)
Review
Poikiloderma with neutropenia (PN, OMIM 604173) is a rare autosomal-recessive genodermatosis. Mutations in the C16orf57 gene have been recently identified as the cause. Here we describe a new case of PN in a white patient, review the literature, and point out the attention on importance of differential diagnosis.
Topics: Diagnosis, Differential; Female; Humans; Infant; Neutropenia; Rothmund-Thomson Syndrome
PubMed: 23823120
DOI: 10.1097/MPH.0b013e31829f35e7 -
Proceedings of the Royal Society of... Mar 1932
PubMed: 19988612
DOI: No ID Found