Acral Peeling Skin Syndrome Resembling Epidermolysis Bullosa Simplex in a 10-Month-Old Boy
The acral peeling skin syndrome (APSS) is a rare autosomal recessive disorder clinically characterized by asymptomatic desquamation of the skin limited to the hands and feet and histologically by cleavage at the stratum granulosum and stratum corneum level [Kiritsi et al.: J Invest Dermatol 2010;130...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2013-08-01
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| Series: | Case Reports in Dermatology |
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| Online Access: | http://www.karger.com/Article/FullText/354572 |
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| author | S. Kavaklieva I. Yordanova L. Bruckner-Tuderman C. Has |
| author_facet | S. Kavaklieva I. Yordanova L. Bruckner-Tuderman C. Has |
| author_sort | S. Kavaklieva |
| collection | DOAJ |
| description | The acral peeling skin syndrome (APSS) is a rare autosomal recessive disorder clinically characterized by asymptomatic desquamation of the skin limited to the hands and feet and histologically by cleavage at the stratum granulosum and stratum corneum level [Kiritsi et al.: J Invest Dermatol 2010;130:1741-1746]. We report on a 10-month-old boy with a history of skin peeling limited to the hands and feet since 2 months of age. Clinical examination revealed erythematous erosions with peripheral desquamation and flaccid blisters. DNA mutation analysis detected two heterozygous TGM5 mutations: c.2T>C, p.M1T in exon 1 and c.337G>T, p.G113C in exon 3 in keeping with the diagnosis of APSS. The clinical presentation of APSS alone might be confusing and strongly resemble epidermolysis bullosa simplex making the differential diagnosis difficult. |
| first_indexed | 2024-12-11T15:24:57Z |
| format | Article |
| id | doaj.art-8a31e1b599ff4deaa12b8d20aca922d6 |
| institution | Directory Open Access Journal |
| issn | 1662-6567 |
| language | English |
| last_indexed | 2024-12-11T15:24:57Z |
| publishDate | 2013-08-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Dermatology |
| spelling | doaj.art-8a31e1b599ff4deaa12b8d20aca922d62022-12-22T01:00:14ZengKarger PublishersCase Reports in Dermatology1662-65672013-08-015221021410.1159/000354572354572Acral Peeling Skin Syndrome Resembling Epidermolysis Bullosa Simplex in a 10-Month-Old BoyS. KavaklievaI. YordanovaL. Bruckner-TudermanC. HasThe acral peeling skin syndrome (APSS) is a rare autosomal recessive disorder clinically characterized by asymptomatic desquamation of the skin limited to the hands and feet and histologically by cleavage at the stratum granulosum and stratum corneum level [Kiritsi et al.: J Invest Dermatol 2010;130:1741-1746]. We report on a 10-month-old boy with a history of skin peeling limited to the hands and feet since 2 months of age. Clinical examination revealed erythematous erosions with peripheral desquamation and flaccid blisters. DNA mutation analysis detected two heterozygous TGM5 mutations: c.2T>C, p.M1T in exon 1 and c.337G>T, p.G113C in exon 3 in keeping with the diagnosis of APSS. The clinical presentation of APSS alone might be confusing and strongly resemble epidermolysis bullosa simplex making the differential diagnosis difficult.http://www.karger.com/Article/FullText/354572Acral peeling skin syndromeTGM5 geneCSTA gene |
| spellingShingle | S. Kavaklieva I. Yordanova L. Bruckner-Tuderman C. Has Acral Peeling Skin Syndrome Resembling Epidermolysis Bullosa Simplex in a 10-Month-Old Boy Case Reports in Dermatology Acral peeling skin syndrome TGM5 gene CSTA gene |
| title | Acral Peeling Skin Syndrome Resembling Epidermolysis Bullosa Simplex in a 10-Month-Old Boy |
| title_full | Acral Peeling Skin Syndrome Resembling Epidermolysis Bullosa Simplex in a 10-Month-Old Boy |
| title_fullStr | Acral Peeling Skin Syndrome Resembling Epidermolysis Bullosa Simplex in a 10-Month-Old Boy |
| title_full_unstemmed | Acral Peeling Skin Syndrome Resembling Epidermolysis Bullosa Simplex in a 10-Month-Old Boy |
| title_short | Acral Peeling Skin Syndrome Resembling Epidermolysis Bullosa Simplex in a 10-Month-Old Boy |
| title_sort | acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10 month old boy |
| topic | Acral peeling skin syndrome TGM5 gene CSTA gene |
| url | http://www.karger.com/Article/FullText/354572 |
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