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1.
Einstein (Sao Paulo) ; 21: eRC0256, 2023.
Article in English | MEDLINE | ID: mdl-37255061

ABSTRACT

A male infant presented with progressive jaundice immediately after birth. Fecal acholia and choluria associated with extensive bullous skin lesions in his trunk, abdomen, and upper and lower limbs developed during phototherapy. Several diagnostic hypotheses were presented, including neonatal porphyria, hemochromatosis, Alagille syndrome, and neonatal lupus. A 24-hour urine sample for the dosage of urinary porphyrins was collected, showing high results (1823.6µg in 100mL). At 50 days of life, fluorescence spectroscopy using a Wood's lamp revealed simultaneous bright red fluorescence of urine-stained diapers and sample blood. A definitive diagnosis of congenital erythropoietic porphyria was made following identification of a mutation of the uroporphyrinogen synthetases III gene on genetic testing. The patient was subsequently maintained in a low light environment since then, resulting in improvement of the lesions. Congenital erythropoietic porphyria is a disease of the group of porphyrias that presents shortly after birth with blistering occurring in regions exposed to the sun or other ultraviolet light. Atrophic scars, mutilated fingers, and bright red fluorescence of the urine and teeth may also be observed. There is no specific treatment, and prophylaxis comprising a total avoidance of sunlight is generally recommended. A high degree of suspicion is required for diagnosis. An early diagnosis can lead to less damage. Here, we present the case of a newborn with congenital erythropoietic porphyria diagnosed after presenting with bullous lesions secondary to phototherapy.


Subject(s)
Lupus Erythematosus, Systemic , Porphyria, Erythropoietic , Infant , Infant, Newborn , Humans , Male , Porphyria, Erythropoietic/diagnosis , Porphyria, Erythropoietic/genetics , Porphyria, Erythropoietic/therapy , Blister/complications , Phototherapy , Lupus Erythematosus, Systemic/complications , Mutation
2.
Einstein (Säo Paulo) ; 21: eRC0256, 2023. graf
Article in English | LILACS-Express | LILACS | ID: biblio-1440066

ABSTRACT

ABSTRACT A male infant presented with progressive jaundice immediately after birth. Fecal acholia and choluria associated with extensive bullous skin lesions in his trunk, abdomen, and upper and lower limbs developed during phototherapy. Several diagnostic hypotheses were presented, including neonatal porphyria, hemochromatosis, Alagille syndrome, and neonatal lupus. A 24-hour urine sample for the dosage of urinary porphyrins was collected, showing high results (1823.6µg in 100mL). At 50 days of life, fluorescence spectroscopy using a Wood's lamp revealed simultaneous bright red fluorescence of urine-stained diapers and sample blood. A definitive diagnosis of congenital erythropoietic porphyria was made following identification of a mutation of the uroporphyrinogen synthetases III gene on genetic testing. The patient was subsequently maintained in a low light environment since then, resulting in improvement of the lesions. Congenital erythropoietic porphyria is a disease of the group of porphyrias that presents shortly after birth with blistering occurring in regions exposed to the sun or other ultraviolet light. Atrophic scars, mutilated fingers, and bright red fluorescence of the urine and teeth may also be observed. There is no specific treatment, and prophylaxis comprising a total avoidance of sunlight is generally recommended. A high degree of suspicion is required for diagnosis. An early diagnosis can lead to less damage. Here, we present the case of a newborn with congenital erythropoietic porphyria diagnosed after presenting with bullous lesions secondary to phototherapy.

3.
Dermatol Reports ; 13(2): 9009, 2021 Aug 01.
Article in English | MEDLINE | ID: mdl-34497696

ABSTRACT

Chromoblastomycosis (CMB) is a cutaneous fungal infection caused by dematiaceous fungi. According to the World Health Organization CMB has been elected as a tropical disease, and it is prevalent in tropical and subtropical regions. The lower extremities are the most affected areas, and the lesions progress with erythema, papules, nodules, verrucose plates and/or ulcerations. So far, few works have demonstrated neoplastic transformation in chronic CMB lesions, and it may be a consequence of prolonged inflammatory response. In the present case report, we described a neoplastic transformation from CMB lesion of a 55- year-old man, presenting lesions only in the left leg for 35 years. After treatment, a verrucous white plate with thick and irregular borders emerged in the ankle, which was identified as a sarcomatoid squamous cell carcinoma. The present case report highlights the importance of an early diagnosis and treatment.

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