Hydroxyurea-Induced Leg Ulceration in a Patient With a HomozygousMTHFRPolymorphism Misdiagnosed as Pyoderma Gangrenosum

Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis)

“…[15][16][17][18][19] Mutated PSTPIP1 leads to decreased inhibition of the inflammasome and consequent activation of caspase-1; this enzyme proteolytically cleaves pro-IL-1b into its active isoform, IL-1b, with increased production of this cytokine, which drives the autoinflammation associated with the PAPA triad. 15 In nonsyndromic PG, mutations in JAK2, 20,21 as well as in MTHFR, 22 have been found, which are associated with haematological disorders. Nesterovitch et al, 23 studying 14 patients with PG, found the G258A mutation of PSTPIP1 in a patient with a history of mild arthralgia and acne, thus suggesting a mild form of PAPA syndrome.…”

Diagnostic Criteria of Ulcerative Pyoderma Gangrenosum

“…Case reports of ulcerative PG and mimickers were collected through a PubMed search for cases published in respected peer-reviewed medical journals chosen by impact factor ( Journal of the American Academy of Dermatology , JAMA Dermatology , British Journal of Dermatology , Journal of the European Academy of Dermatology and Venereology , and Acta Dermato-Venereologica ) from 2001 to 2016 . To balance the number of PG cases and mimics, additional cases of non-PG ulcers were found using the search terms ulcer and vasculitis , ulcer and venous , and ulcer and calciphylaxis because such ulcers are often misdiagnosed as PG (eAppendix 2 in the Supplement).…”

Hydroxyurea in the management of sickle cell disease: pharmacogenomics and enzymatic metabolism

“…One of the complications observed in patients treated with HU is cutaneous ulceration. In 2014, Crittenden and colleagues presented a case of a severe leg ulcer in an old woman with a history of myelodysplastic syndrome who has been on HU for 14 years, and homozygote for the C677T polymorphism of the methylene tetrahydrofolate reductase (MTHFR) gene, suggesting the implication of the MTHFR polymorphism or others thrombophilic genetic mutation in the development of cutaneous ulceration in patients on HU [57].…”