Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1969 1
1978 1
1995 1
2006 1
2012 1
2014 1
2015 1
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

7 results

Results by year

Filters applied: . Clear all
Page 1
Inherited skin disorders presenting with poikiloderma.
Rayinda T, van Steensel M, Danarti R. Rayinda T, et al. Int J Dermatol. 2021 Nov;60(11):1343-1353. doi: 10.1111/ijd.15498. Epub 2021 Mar 19. Int J Dermatol. 2021. PMID: 33739439 Review.
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), xer …
Poikiloderma can be a key presenting symptom of Rothmund-Thomson syndrome (RTS), dyskeratosis congenita (DC), hereditary sclerosin …
Hereditary sclerosing poikiloderma.
Lee HJ, Shin DH, Choi JS, Kim KH. Lee HJ, et al. J Korean Med Sci. 2012 Feb;27(2):225-7. doi: 10.3346/jkms.2012.27.2.225. Epub 2012 Jan 27. J Korean Med Sci. 2012. PMID: 22323875 Free PMC article.
Hereditary sclerosing poikiloderma (HSP) is a very rare disease. The clinical features are principally widespread poikiloderma and linear hyperkeratotic and sclerotic bands. ...
Hereditary sclerosing poikiloderma (HSP) is a very rare disease. The clinical features are principally widespread poiki …
Hereditary sclerosing poikiloderma.
Greer KE, Weary PE, Nagy R, Robinow M. Greer KE, et al. Int J Dermatol. 1978 May;17(4):316-22. doi: 10.1111/j.1365-4362.1978.tb06085.x. Int J Dermatol. 1978. PMID: 659034
Three persons with hereditary sclerosing poikiloderma were studied to find any clue to explain the mechanism involved in producing the cutaneous lesions which are so striking clinically and also evident histologically. ...
Three persons with hereditary sclerosing poikiloderma were studied to find any clue to explain the mechanism involved i …
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C. Piard J, et al. Clin Genet. 2015 Mar;87(3):244-51. doi: 10.1111/cge.12361. Epub 2014 Mar 26. Clin Genet. 2015. PMID: 24635570
Clinical and molecular reevaluation led to a different diagnosis in 7/17 negative cases, including Clericuzio-type poikiloderma with neutropenia, hereditary sclerosing poikiloderma, and craniosynostosis/anal anomalies/porokeratosis. ...
Clinical and molecular reevaluation led to a different diagnosis in 7/17 negative cases, including Clericuzio-type poikiloderma with neutrop …
Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome?
Khumalo NP, Pillay K, Beighton P, Wainwright H, Walker B, Saxe N, Mayosi BM, Bateman ED. Khumalo NP, et al. Br J Dermatol. 2006 Nov;155(5):1057-61. doi: 10.1111/j.1365-2133.2006.07473.x. Br J Dermatol. 2006. PMID: 17034542
Rather than name this disorder a variant of Weary syndrome, it might be prudent to use as an umbrella title one composed by Weary himself: 'hereditary sclerosing poikiloderma' (HSP), under which variants such as HSP Weary type, HSP with cardiac involvement (a …
Rather than name this disorder a variant of Weary syndrome, it might be prudent to use as an umbrella title one composed by Weary himself: ' …
Long-term follow-up of cutaneous changes in siblings with mandibuloacral dysplasia who were originally considered to have hereditary sclerosing poikiloderma.
Fryburg JS, Sidhu-Malik N. Fryburg JS, et al. J Am Acad Dermatol. 1995 Nov;33(5 Pt 2):900-2. doi: 10.1016/0190-9622(95)90432-8. J Am Acad Dermatol. 1995. PMID: 7593806
We describe the cases of two siblings with features of mandibuloacral dysplasia who as children were considered to have hereditary sclerosing poikiloderma. On their reevaluation as adults, the clinical features of their condition were perceived to be compatib …
We describe the cases of two siblings with features of mandibuloacral dysplasia who as children were considered to have hereditary …