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Journal of Korean Medical Science Feb 2012Hereditary sclerosing poikiloderma (HSP) is a very rare disease. The clinical features are principally widespread poikiloderma and linear hyperkeratotic and sclerotic...
Hereditary sclerosing poikiloderma (HSP) is a very rare disease. The clinical features are principally widespread poikiloderma and linear hyperkeratotic and sclerotic bands. We report an 18-yr-old male who presented reticular hyperpigmented lesions on the trunk and extremities since 2-yr-old. Also, linear sclerosing bands appeared on both antecubital and popliteal fossae after yr. Histopathologic finding showed dense sclerotic collagen fibers with telangiectasia in the upper dermis and fragmentations of damaged elastic fibers in the elastic stain, consistent with HSP. We report the first Korean case of HSP.
Topics: Abnormalities, Multiple; Adolescent; Elastic Tissue; Fingers; Humans; Hyperpigmentation; Male; Micrognathism; Rothmund-Thomson Syndrome; Sclerosis; Skin Diseases
PubMed: 22323875
DOI: 10.3346/jkms.2012.27.2.225 -
Frontiers in Medicine 2021Poikiloderma with neutropenia (PN) is a very rare genetic disorder mainly characterized by poikiloderma and congenital neutropenia, which explains the recurrence of...
Poikiloderma with neutropenia (PN) is a very rare genetic disorder mainly characterized by poikiloderma and congenital neutropenia, which explains the recurrence of respiratory infections and risk of developing bronchiectasis. Patients are also prone to develop hematological and skin cancers. Here, we present the case of a patient, the only child of apparently unrelated Serbian parents, affected by PN resulting from the homozygous mutation NM_024598.3:c.243G>A (p.Trp81Ter) of ; early onset of poikiloderma (1 year of age) was associated with cutaneous mastocytosis. We also provide a review of the literature on this uncommon condition with a focus on dermatological findings.
PubMed: 34179048
DOI: 10.3389/fmed.2021.680363 -
Zeitschrift Fur Hautkrankheiten Mar 1989Poikiloderma is characterized by the syntopy of diffuse atrophy, leukomelanodermia and teleangiectasia. We differentiate between symptomatic, idiopathic and congenital... (Review)
Review
Poikiloderma is characterized by the syntopy of diffuse atrophy, leukomelanodermia and teleangiectasia. We differentiate between symptomatic, idiopathic and congenital forms. Congenital poikiloderma shows 3 decisive features: early appearance, familial occurrence, and various associated congenital malfomations. On account of distinctive features - such as the consanguinity of the parents, cataracts, leukoplakia, bullas, and verrucous keratoses - we can distinguish between 5 biotypes of congenital poikiloderma, which are named after their first observers: Rothmund's, Thomson's, Zinsser's, Brain's and Dowling's syndrome.
Topics: Diagnosis, Differential; Humans; Rothmund-Thomson Syndrome; Skin Diseases; Syndrome
PubMed: 2655322
DOI: No ID Found -
The American Journal of Dermatopathology Aug 1985
Topics: Graft vs Host Disease; Humans; Rothmund-Thomson Syndrome; Skin; Skin Diseases
PubMed: 3842794
DOI: 10.1097/00000372-198508000-00021 -
The British Journal of Dermatology Jan 1955
Topics: Atrophy; Connective Tissue Diseases; Skin Diseases
PubMed: 13230401
DOI: No ID Found -
Proceedings of the Royal Society of... Sep 1943
PubMed: 19992725
DOI: No ID Found -
Rheumatology (Oxford, England) May 2020
PubMed: 32415769
DOI: 10.1093/rheumatology/keaa236 -
European Journal of Dermatology : EJD Aug 2020
Topics: Amyloidosis; Chronic Disease; Female; Humans; Hyperpigmentation; Hypopigmentation; Middle Aged; Skin Diseases
PubMed: 32969819
DOI: 10.1684/ejd.2020.3827 -
Pediatric Dermatology Mar 1991Since birth an 8-year-old girl had a rash on both cheeks, consistent clinically and histologically with poikiloderma. She also had visual impairment to the extent of... (Review)
Review
Since birth an 8-year-old girl had a rash on both cheeks, consistent clinically and histologically with poikiloderma. She also had visual impairment to the extent of light perception only, due to microthalmia and dense scleralization of the corneas. These features were considered consistent with a diagnosis of Rothmund-Thomson syndrome.
Topics: Cataract; Child; Female; Growth Disorders; Humans; Keratosis; Rothmund-Thomson Syndrome; Syndrome
PubMed: 1862027
DOI: 10.1111/j.1525-1470.1991.tb00842.x