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About 94 results

ALLMedicine™ Poikiloderma With Neutropenia Center

Research & Reviews  47 results

Clericuzio-type poikiloderma with neutropenia in a patient from India.
https://doi.org/10.1002/ajmg.a.61943
American Journal of Medical Genetics. Part A REFERENCES; Bishnoi A, Jamwal M et. al.

Oct 28th, 2020 - A 9-year-old boy presented for evaluation of variegated skin pigmentation. Palms and soles revealed honeycombed hyperpigmented hyperkeratosis. Irregular, firm, skin coloured nodules suggestive of cutaneous calcification were present on both elbows...

When Rothmund-Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma wi...
https://doi.org/10.1097/MCD.0000000000000332
Clinical Dysmorphology; Tadros S, Forde K et. al.

Sep 8th, 2020 - When Rothmund-Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma with neutropenia.|2020|Tadros S,Forde K,Syed S,Gholam K,Hurst J,|

Jaccoud's arthropathy in Clericuzio-type poikiloderma with neutropenia.
https://doi.org/10.1093/rheumatology/keaa236
Rheumatology (Oxford, England); Parperis K, Letsos K et. al.

May 15th, 2020 - Jaccoud's arthropathy in Clericuzio-type poikiloderma with neutropenia.|2020|Parperis K,Letsos K,Loizidou MA,Hadjisavvas A,Tanteles GA,|

Poikiloderma with neutropenia and associated squamous cell carcinoma: A case report.
https://doi.org/10.1111/pde.13645
Pediatric Dermatology; Hertel DP, Mohammad TF et. al.

Aug 28th, 2018 - Here, we describe a case of a patient with known poikiloderma with neutropenia who developed cutaneous squamous cell carcinoma in a chronically sun-exposed area at the age of 14. To date, there is only one other report of this association. This re...

Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation.
https://doi.org/10.1002/pbc.27262
Pediatric Blood & Cancer; Sakka R, Mahjoub B et. al.

May 25th, 2018 - Poikiloderma with neutropenia (PN) is a genodermatosis characterized by poikiloderma, permanent neutropenia, recurrent infections, nail abnormalities, and palmoplantar hyperkeratosis. We report the case of a Tunisian patient with PN. Skin lesions ...

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Clinicaltrials.gov  47 results

Clericuzio-type poikiloderma with neutropenia in a patient from India.
https://doi.org/10.1002/ajmg.a.61943
American Journal of Medical Genetics. Part A REFERENCES; Bishnoi A, Jamwal M et. al.

Oct 28th, 2020 - A 9-year-old boy presented for evaluation of variegated skin pigmentation. Palms and soles revealed honeycombed hyperpigmented hyperkeratosis. Irregular, firm, skin coloured nodules suggestive of cutaneous calcification were present on both elbows...

When Rothmund-Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma wi...
https://doi.org/10.1097/MCD.0000000000000332
Clinical Dysmorphology; Tadros S, Forde K et. al.

Sep 8th, 2020 - When Rothmund-Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma with neutropenia.|2020|Tadros S,Forde K,Syed S,Gholam K,Hurst J,|

Jaccoud's arthropathy in Clericuzio-type poikiloderma with neutropenia.
https://doi.org/10.1093/rheumatology/keaa236
Rheumatology (Oxford, England); Parperis K, Letsos K et. al.

May 15th, 2020 - Jaccoud's arthropathy in Clericuzio-type poikiloderma with neutropenia.|2020|Parperis K,Letsos K,Loizidou MA,Hadjisavvas A,Tanteles GA,|

Poikiloderma with neutropenia and associated squamous cell carcinoma: A case report.
https://doi.org/10.1111/pde.13645
Pediatric Dermatology; Hertel DP, Mohammad TF et. al.

Aug 28th, 2018 - Here, we describe a case of a patient with known poikiloderma with neutropenia who developed cutaneous squamous cell carcinoma in a chronically sun-exposed area at the age of 14. To date, there is only one other report of this association. This re...

Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation.
https://doi.org/10.1002/pbc.27262
Pediatric Blood & Cancer; Sakka R, Mahjoub B et. al.

May 25th, 2018 - Poikiloderma with neutropenia (PN) is a genodermatosis characterized by poikiloderma, permanent neutropenia, recurrent infections, nail abnormalities, and palmoplantar hyperkeratosis. We report the case of a Tunisian patient with PN. Skin lesions ...

see more →