Dyskeratosis congenita: a case report on a rare disease
Abstract Dyskeratosis congenita is a very rare inherited haematological disorder characterised by a classical clinical triad of leukoplakia, skin pigmentation and dystrophied nails. Here is a case of a young patient who presented with brittle nails, lacy hyperpigmentation of the skin and leukopl...
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| Format: | Article |
| Language: | English |
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Pakistan Medical Association
2020-11-01
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| Series: | Journal of the Pakistan Medical Association |
| Online Access: | https://www.ojs.jpma.org.pk/index.php/public_html/article/view/2042 |
| _version_ | 1797820592177545216 |
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| author | Sehar Khaliq Syed Kumail Hasan Kazmi |
| author_facet | Sehar Khaliq Syed Kumail Hasan Kazmi |
| author_sort | Sehar Khaliq |
| collection | DOAJ |
| description |
Abstract
Dyskeratosis congenita is a very rare inherited haematological disorder characterised by a classical clinical triad of leukoplakia, skin pigmentation and dystrophied nails. Here is a case of a young patient who presented with brittle nails, lacy hyperpigmentation of the skin and leukoplakia along with pancytopenia. Haematopoietic stem cell transplantation is the only cure for this disease but due to financial constraints of the family it was not possible. The patient was placed on androgen therapy and showed favourable response but later was lost to follow-up.
Keywords: Dyskeratosis Congenita, Pancytopenia, Continuous...
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| first_indexed | 2024-03-13T09:41:38Z |
| format | Article |
| id | doaj.art-8333deba8e2c48a6b8f8a695809bfca9 |
| institution | Directory Open Access Journal |
| issn | 0030-9982 |
| language | English |
| last_indexed | 2024-03-13T09:41:38Z |
| publishDate | 2020-11-01 |
| publisher | Pakistan Medical Association |
| record_format | Article |
| series | Journal of the Pakistan Medical Association |
| spelling | doaj.art-8333deba8e2c48a6b8f8a695809bfca92023-05-25T04:24:59ZengPakistan Medical AssociationJournal of the Pakistan Medical Association0030-99822020-11-0171310.47391/JPMA.045Dyskeratosis congenita: a case report on a rare diseaseSehar Khaliq0Syed Kumail Hasan Kazmi1Foundation University Islamabad/ Fauji Foundation Hospital RawalpindiFoundation University Medical College, Rawalpindi, Pakistan Abstract Dyskeratosis congenita is a very rare inherited haematological disorder characterised by a classical clinical triad of leukoplakia, skin pigmentation and dystrophied nails. Here is a case of a young patient who presented with brittle nails, lacy hyperpigmentation of the skin and leukoplakia along with pancytopenia. Haematopoietic stem cell transplantation is the only cure for this disease but due to financial constraints of the family it was not possible. The patient was placed on androgen therapy and showed favourable response but later was lost to follow-up. Keywords: Dyskeratosis Congenita, Pancytopenia, Continuous... https://www.ojs.jpma.org.pk/index.php/public_html/article/view/2042 |
| spellingShingle | Sehar Khaliq Syed Kumail Hasan Kazmi Dyskeratosis congenita: a case report on a rare disease Journal of the Pakistan Medical Association |
| title | Dyskeratosis congenita: a case report on a rare disease |
| title_full | Dyskeratosis congenita: a case report on a rare disease |
| title_fullStr | Dyskeratosis congenita: a case report on a rare disease |
| title_full_unstemmed | Dyskeratosis congenita: a case report on a rare disease |
| title_short | Dyskeratosis congenita: a case report on a rare disease |
| title_sort | dyskeratosis congenita a case report on a rare disease |
| url | https://www.ojs.jpma.org.pk/index.php/public_html/article/view/2042 |
| work_keys_str_mv | AT seharkhaliq dyskeratosiscongenitaacasereportonararedisease AT syedkumailhasankazmi dyskeratosiscongenitaacasereportonararedisease |