A case of linear porokeratosis with penile localization

Porokeratosis (PK), a disorder of epidermal keratinization with a unique clinical appearance, is characterized histopathologically by the presence of cornoid lamella. Many different clinical forms of PK have been described i.e., classical plaque-type PK of Mibelli, disseminated superficial actinic PK, linear PK, PK palmaris et plantaris disseminata, and punctate PK. Linear PK is a rare variant of PK presenting with slightly scaly atrophic papules following Blaschko’s lines. Additionally, PK confined to the genital area is also an uncommon condition. Both genital and linear PK are extremely rare and only one case of genital linear PK has been reported in the literature. Here, we report the case of a patient with penile linear PK who was treated with diclofenac sodium gel and imiquimod cream but did not recover

Biotinidaz enzim eksikliği: Klinik ve immünolojik özellikleri ile iki vakanın takdimi

Biotinidase deficiency is the primary defect responsible for late-onset, multiple carboxylase deficiency. It is often characterized by neurological findings (hypotonia, ataxia, seizures, optic atrophy and hearing loss) and cutaneous findings (alopecia, seborrhea or atopic rash, conjunctivitis and candidiasis). Although neurological or cutaneous findings are frequently encountered initial symptoms, apnea and laryngeal stridor may be the prominent findings. In this report, two patients with laryngeal stridor are reported. Although one patient had normal humoral and cellular immunity, the other patient had a low serum IgG level and low total B-cell count. Biotinidase deficiency should be considered in children with persistent laryngeal stridor, especially in the presence of other characteristic neurological or cutaneous findings.Biotinidaz enzim eksikliği multipl karboksilaz eksikliği'nin geç başlangıçh şeklidir. Nörolojik* Bulgular (hipotoni, ataksi, konvülsiyonlar, optik atrofi, işitme kaybı) ve deri bulguları (alopesi, seboreik veya atopik deri döküntüleri, konjunktivit) sık görülen başlangıç bulgularıdır. Ancak apne ve laringeal stridorun temel yakınma olduğu vakalar da tanımlanmıştır. Burada laringeal stridor ve solunum güçlüğü yakınması ile getirilen ve biotinidaz enzim eksikliği tanısı kona'n iki vaka sunulmuştur. Serum IgG düzeyi ve total B lenfosit sayısı bir hastada normalin altında bulunurken, diğer hastada humoral ve hücresel immunite testleri normal bulunmuştur. Israrlı laringeal stridor yakınması olan hastalarda biotinidaz enzim eksikliği özellikle diğer karakteristik nörolojik ve deri bulgularının varlığında düşünülmelidir