ABSTRACT
Genodermatoses encompass a spectrum of hereditary skin disorders stemming from mutations in genes pivotal for skin development, structure, and function. This study investigated the prevalence, gender predilection, and inheritance patterns of genodermatoses in a tertiary-level hospital through a one-year observational study. Among 157,051 dermatology outpatient department patients, 105 cases of genodermatoses were diagnosed, yielding a prevalence rate of 0.067%. Hamartoneoplastic syndromes and inherited disorders of cornification were the most prevalent subgroups, with neurofibromatosis type 1 and tuberous sclerosis complex 1 leading within these categories. The average age at presentation varied among different subgroups. A 2:1 male-to-female ratio was observed across all subgroups. Autosomal dominant inheritance was predominant. A positive family history in 46 cases and consanguinity among parents in 28 instances was reported. Genodermatoses pose diagnostic challenges due to their clinical complexity and rarity, which is compounded by limited epidemiological data. Molecular diagnosis advancements offer insights into genotype-phenotype correlations and facilitate genetic counseling and prenatal diagnosis (PND). Raising awareness among healthcare professionals and the public is critical for improving the quality of life for affected individuals.
ABSTRACT
Syphilis, caused by Treponema pallidum subsp. pallidum, remains a global health challenge, with a significant burden of new cases annually. The disease disproportionately affects men who have sex with men (MSMs) and endemic, low-income regions. While secondary syphilis typically manifests with a polymorphic rash, individuals with human immunodeficiency virus (HIV) coinfection may present with varied signs and symptoms. Here, we report a case of a 21-year-old male student with painful target lesions on his genitalia, deviating from the typical syphilis presentation. He was found to have concurrent molluscum contagiosum and HIV-1 infection. Serologic testing confirmed syphilis and anti-HIV-1 antibodies. Prompt initiation of antiretroviral therapy and benzathine penicillin G led to symptom resolution. This case highlights the importance of recognizing atypical painful target lesions as a potential manifestation of syphilis, especially in patients with HIV coinfection, to ensure timely diagnosis and treatment.
ABSTRACT
Mycetoma is a chronic granulomatous infectious disease with a triad of subcutaneous swelling, discharging sinuses and the presence of granules. The infection may occur following minor trauma or penetrating thorn injury. We report a case of a man in his 40s with a history of thorn prick 9 years ago, followed by the formation of painless discharging sinuses on the right foot for the past 2 years. Clinical, local epidemiological, histopathological examination and Gram stain confirmed the diagnosis of actinomycetoma. Prior to initiating the Welsh regimen, a pretreatment assessment of the patient's auditory function was conducted through pure tone audiometry, indicating the existence of pre-existing high-frequency bilateral sensorineural hearing loss. The patient was treated with linezolid as an alternative to amikacin, at a dosage of 600 mg two times per day, leading to complete resolution within 3 weeks. This underscores linezolid's efficacy as a safe and cost-effective alternative for actinomycetoma, without causing ototoxic side effects.
