ABSTRACT
Sweet's syndrome or acute febrile neutrophilic dermatosis is characterised by the abrupt onset of painful erythematous plaques or nodules, pyrexia (>38°F) and histopathologic evidence of a dense neutrophilic infiltrate without vasculitis. It has been reported in association with many diseases, however, its association with Hashimoto's thyroiditis is rare. A 47-year-old Filipino woman with a 30-year history of an asymptomatic anterior neck mass developed painful, erythematous annular plaques on her arms with associated fever. Skin biopsy confirmed the diagnosis of Sweet's syndrome. The anterior neck mass was confirmed to be Hashimoto's thyroiditis. This is a rare association with only two reported cases in the literature. There are no published cases in the Philippines on Sweet's syndrome and Hashimoto's thyroiditis to date.
Subject(s)
Hashimoto Disease/complications , Sweet Syndrome/complications , Biopsy , Colchicine/therapeutic use , Diagnosis, Differential , Female , Hashimoto Disease/diagnosis , Hashimoto Disease/therapy , Humans , Middle Aged , Recurrence , Sweet Syndrome/diagnosis , Sweet Syndrome/therapy , Thyroidectomy , Thyroxine/therapeutic use , Tubulin Modulators/therapeutic useABSTRACT
The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-chromosome. Molecular characterization of 24 unrelated patients from different ethnic backgrounds revealed 23 different mutations of the PORCN gene in Xp11.23. Three were microdeletions eliminating PORCN and encompassing neighboring genes such as EBP, the gene associated with Conradi-Hünermann-Happle syndrome (CDPX2). 12/24 patients carried nonsense mutations resulting in loss of function. In one case a canonical splice acceptor site was mutated, and 8 missense mutations exchanged highly conserved amino acids. FDH patients overcome the consequences of potentially lethal X-chromosomal mutations by extreme skewing of X-chromosome inactivation in females, enabling transmission of the trait in families, or by postzygotic mosaicism both in male and female individuals. Molecular characterization of the PORCN mutations in cases diagnosed as Goltz syndrome is particularly relevant for genetic counseling of patients and their families since no functional diagnostic test is available and carriers of the mutation might otherwise be overlooked due to considerable phenotypic variability associated with the mosaic status.
