A 7-year-old Chilean boy presented with severe photosensitivity, blistering, erosions and scarring on sun-exposed areas of the body since the age of 6 months. Additionally, he showed a short stature and shortening of ...A 7-year-old Chilean boy presented with severe photosensitivity, blistering, erosions and scarring on sun-exposed areas of the body since the age of 6 months. Additionally, he showed a short stature and shortening of the fingers. Laboratory examination revealed greatly elevated protoporphyrin levels in the blood. Such biochemical findings can be observed in homozygous variants of usually autosomal dominantly inherited acute porphyrias such as variegate porphyria (VP) and hereditary coproporphyria, which usually do not become manifest before the second or third decade of life in heterozygotes. Using polymerase chain reaction-based techniques we identified a missense mutation in exon 7 on the paternal allele and a frameshift mutation in exon 13 on the maternal allele of the protoporphyrinogen oxidase gene that harbours the mutations underlying VP. This is the first homozygous case of VP in South America. As VP represents the most frequent type of acute porphyria not only in Chile but also in South Africa, more such cases could be expected in the future, particularly because a founder mutation for this disease has already been described in the Chilean and South African population.展开更多
Molluscum contagiosum is a viral disease frequently observed in child ren and adolescents with atopic dermatitis, in whom it poses a special therapeutic chall enge. A 3-year-old girl presentedwith atopic eczema and di...Molluscum contagiosum is a viral disease frequently observed in child ren and adolescents with atopic dermatitis, in whom it poses a special therapeutic chall enge. A 3-year-old girl presentedwith atopic eczema and disseminatedmolluscu mcontagiosum on her buttocks and upper legs. Topical application of 0.05% tret inoin resulted in a steady regression of the lesions. Other therapeutic options include topical antiviral agents, cryosurgery, laser treatment, and curettage. F urther, the therapeutic outcome is highly dependent on an adequate therapy of th e concomitant atopic eczema.展开更多
Hairdressers are prone to developing occupational skin diseases, particularly hand eczema of different origins. Rather uncommon, however, is the so-called barber’ s hair sinus that is caused by hair fragments penetra...Hairdressers are prone to developing occupational skin diseases, particularly hand eczema of different origins. Rather uncommon, however, is the so-called barber’ s hair sinus that is caused by hair fragments penetrating the skin preferably in the interdigital spaces of their hands. Whereas, to date, the disease has almost exclusively been reported to occur on the hands of male hairdressers, we herein present the first case of a female hairdresser who developed a barber’ s hair sinus on one of her feet.展开更多
A 5 1/2-year-old boy revealed symmetric erythematous plaques on b oth arms and legs as well as in the face. Additionally, contractions of several digital joints were noted. We diagnosed a progressive symmetric erythro...A 5 1/2-year-old boy revealed symmetric erythematous plaques on b oth arms and legs as well as in the face. Additionally, contractions of several digital joints were noted. We diagnosed a progressive symmetric erythrokeratoderma and i nitiated a topical therapy with tretinoin. Here we discuss the etiology, differe ntial diagnoses, and therapeutic options of this rare disorder of keratinization .展开更多
A9-year-old female developed facial papules and pustules since fo ur years . Clinically, perioral dermatitis was suspected. Different topical therapy regim ens and systemic antibiotics had been unsuccessful and a skin...A9-year-old female developed facial papules and pustules since fo ur years . Clinically, perioral dermatitis was suspected. Different topical therapy regim ens and systemic antibiotics had been unsuccessful and a skin biopsy showed gran ulomatous (lupoid) rosacea. Only systemic antibiotic treatment with minocyclin l ed to healing of the skin lesions. While granulomatous rosacea-like dermatitis is more frequently diagnosed in adults, it is only rarely encountered in childr en where, in most of the cases, it represents a therapeutic challenge.展开更多
文摘A 7-year-old Chilean boy presented with severe photosensitivity, blistering, erosions and scarring on sun-exposed areas of the body since the age of 6 months. Additionally, he showed a short stature and shortening of the fingers. Laboratory examination revealed greatly elevated protoporphyrin levels in the blood. Such biochemical findings can be observed in homozygous variants of usually autosomal dominantly inherited acute porphyrias such as variegate porphyria (VP) and hereditary coproporphyria, which usually do not become manifest before the second or third decade of life in heterozygotes. Using polymerase chain reaction-based techniques we identified a missense mutation in exon 7 on the paternal allele and a frameshift mutation in exon 13 on the maternal allele of the protoporphyrinogen oxidase gene that harbours the mutations underlying VP. This is the first homozygous case of VP in South America. As VP represents the most frequent type of acute porphyria not only in Chile but also in South Africa, more such cases could be expected in the future, particularly because a founder mutation for this disease has already been described in the Chilean and South African population.
文摘Molluscum contagiosum is a viral disease frequently observed in child ren and adolescents with atopic dermatitis, in whom it poses a special therapeutic chall enge. A 3-year-old girl presentedwith atopic eczema and disseminatedmolluscu mcontagiosum on her buttocks and upper legs. Topical application of 0.05% tret inoin resulted in a steady regression of the lesions. Other therapeutic options include topical antiviral agents, cryosurgery, laser treatment, and curettage. F urther, the therapeutic outcome is highly dependent on an adequate therapy of th e concomitant atopic eczema.
文摘Hairdressers are prone to developing occupational skin diseases, particularly hand eczema of different origins. Rather uncommon, however, is the so-called barber’ s hair sinus that is caused by hair fragments penetrating the skin preferably in the interdigital spaces of their hands. Whereas, to date, the disease has almost exclusively been reported to occur on the hands of male hairdressers, we herein present the first case of a female hairdresser who developed a barber’ s hair sinus on one of her feet.
文摘A 5 1/2-year-old boy revealed symmetric erythematous plaques on b oth arms and legs as well as in the face. Additionally, contractions of several digital joints were noted. We diagnosed a progressive symmetric erythrokeratoderma and i nitiated a topical therapy with tretinoin. Here we discuss the etiology, differe ntial diagnoses, and therapeutic options of this rare disorder of keratinization .
文摘A9-year-old female developed facial papules and pustules since fo ur years . Clinically, perioral dermatitis was suspected. Different topical therapy regim ens and systemic antibiotics had been unsuccessful and a skin biopsy showed gran ulomatous (lupoid) rosacea. Only systemic antibiotic treatment with minocyclin l ed to healing of the skin lesions. While granulomatous rosacea-like dermatitis is more frequently diagnosed in adults, it is only rarely encountered in childr en where, in most of the cases, it represents a therapeutic challenge.
