hydroxychloroquine sulfate A differential diagnosis of DSH s

A differential diagnosis of DSH should include reticulate acropigmentation of Kitamura, DUH, Dowling–Degos disease (DDD), a mild form of xeroderma pigmentosum, and pigment disorders due to exposure to chemicals or radiation. A 45-year-old female patient was presented to our clinic with asymptomatic mottled pigmentation over neck for 15 years and a positive family history. Under the clinical impression of DSH, skin biopsy and mutation analysis were performed, which showed solar lentigo and negative finding, respectively. As a result, DDD was more likely. Clinically, DDD also displayed mottled hyper- and hypopigmented macules but with a predominantly flexural impact and may be accompanied by additional cutaneous features such as facial pits, comedo-like papules, or palmar pits. A 25-year-old male patient came to our clinic with complaints of generalized hyperpigmented macules of various sizes and multiple hypopigmented macules over dorsum of hands since birth. His mother and sister also had similar skin lesions. The hematoxylin and eosin-stained specimens taken from the hypopigmented lesion revealed melanocytopenia with marked hypomelanization. Findings from the hyperpigmented lesion showed epidermal hypermelanization without melanocytopenia. Based on the clinical and histological findings with negative mutation analysis, a diagnosis of DUH was made for this patient (Figure 2). DUH was initially described by Ichikawa and Hiraga in 1933. Typical DUH skin lesions were characterized by numerous hyper- and hypopigmented macules of various sizes seen on the trunk and limbs, including the dorsal of the hands and feet. Facial lesions are seen in 50% of affected individuals. DUH usually has autosomal-dominant inheritance, but a few cases of autosomal-recessive inheritance and spontaneous origin have been described. Two loci responsible for the disease have been identified: one on chromosome 6q24.2–q25.2 in two Chinese hydroxychloroquine sulfate and another on chromosome 12q21–q23 in an Arab population. In spite of the similarity in phenotypes, DSH and DUH are genetically distinct disorders. Currently, there is no set of diagnostic criteria for DSH. Clinically, DSH is characterized by hyper- and hypopigmented macules on the dorsum of hands and feet appearing in infancy or early childhood. Pathological findings allow us to assess epidermal melanization but may not show consistent findings due to different sampling or assessment methods. In 2003, the Chinese and Japanese groups have identified pathogenic mutations in the ADAR1 gene. Prior to this, most of our cases were diagnosed with DSH based on clinicopathologic grounds. After 2003, however, the diagnosis is largely supported by mutation analysis, especially in doubtful cases. Limitations of this study include retrospective design, referral bias, limited number of cases, and lack of mutation and histological analyses performed on all patients. In summary, with a series of 25 patients with DSH, we hope to provide addition to the DSH mutation database and contribute further to the understanding of DSH genotype/phenotype correlations. The variety of clinical phenotypes even in the pedigree may suggest presence of factors other than the ADAR1 gene. The relationship between DSH and neurological or mental disorder also deserves to be further elucidated.
Introduction Erythema induratum (EI) was first described by Bazin in 1861 and was considered to be related to tuberculids. Montgomery et al introduced the term nodular vasculitis in 1945 to differentiate EI as lesions of nontuberculous origin. EI is clinically characterized by recurrent crops of tender nodules on the lower legs, and its pathology shows lobular panniculitis with granulomatous inflammation, vasculitis, and focal fat necrosis. Currently, many consider EI to be a multifactorial disorder with diverse causes, including tuberculosis and hepatitis C infection. Herein, we report a case of EI related to pulmonary Mycobacterium abscessus infection.