The brave four-year-old from Kells, Co Meath, suffered from a rare bone marrow disorder called Dyskeratosis
Cognetia, which affects just one in a million children worldwide.
Collins achieved fame by showing that defects in telomerase (the enzyme that lengthens telomeres) are linked with a genetic disease called dyskeratosis
congenita, which is associated with bone marrow failure.
During the one-and-a-half day symposium, researchers gave presentations about inherited bone marrow failure disorders such as Diamond Blackfan anemia, Shwachman-Diamond syndrome, Fanconi anemia, and dyskeratosis
congenita, as well as acquired bone marrow failure, most often referred to as acquired aplastic anemia.
Telomere shortening occurs concomitantly with the ageing of the organism and is accelerated in the context of human diseases associated with mutations in telomerase, such as some cases of dyskeratosis
congenita, idiopathic pulmonary fibrosis and aplastic anaemia.
This patient demonstrated several features of dyskeratosis
congenita (DC) in its classic form (nail dystrophy, mucosal leukoplakia, and skin pigmentation changes) and in concert with other abnormalities, including BM failure, urethral strictures, excessive tear production (epiphora), premature balding and gray hair, and pulmonary disease (1).
Andrews gives a list of conditions affected by telomere shortening, including: cardiovascular, cancer, COPD, degenerative disc disease, Alzheimer's, osteoarthritis, rheumatoid arthritis, osteoporosis, general immunity, skin aging, macular degeneration, liver cirrhosis, muscular dystrophy, cell and tissue transplants, AIDS, progeria, dyskeratosis
congenita, idiopathic pulmonary fibrosis, cri du chat syndrome, Down syndrome, Fanconi's anemia, tuberous sclerosis, Werner's syndrome, and aging itself.
congenita 1, Required for dyskerin ribosome biogenesis and telomere maintenance 0.
Mutations in any of these components may result in a rare bone marrow failure syndrome known as dyskeratosis
The new findings arose from Mary Armanios' observation that diabetes seems to occur more often in patients with dyskeratosis
congenita, a rare, inherited disease caused by short telomeres.
Squamous cell carcinomas identified within papillomas show prominent cellular pleomorphism, loss of maturation, increased dyskeratosis
and hyperkeratosis and most importantly, invasion of adjacent lymphatic tissues through the bronchial wall (2).
5-year-old boy with dyskeratosis
congenita was brought for treatment to our hospital due to severe persistent cytopenia.
Pathologic differential diagnosis of clear cell squamous cell carcinoma in situ: conditions with intraepidermal Pagetoid cells Clear cell papulosis Clear cell squamous cell carcinoma in situ Clear cells of Toker (of the nipple epidermis) Extramammary Paget disease Cutaneous T-cell lymphoma Eccrine porocarcinoma Histiocytosis X (Langerhans cell histiocytosis) Langerhans cell microabscess (in cutaneous delayed hypersensitivity reactions) Malignant melanoma in situ (superficial spreading) Merkel cell carcinoma (with pagetoid intraepidermal spread) Metastasis (epidermotropic) Pagetoid dyskeratosis
Paget disease (extramammary and mammary) Sebaceous carcinoma Spitz nevus (pagetoid) Table 2.