Genetic Skin Disease Group, St John's Institute of Dermatology, King's College London, Guy's Campus, London, UK.
Clin Exp Dermatol. 2009 Dec;34(8):e825-8. doi: 10.1111/j.1365-2230.2009.03568.x.
Epidermolysis bullosa pruriginosa (EBP) is a clinical variant of dominant or occasionally recessive, dystrophic epidermolysis bullosa (EB). Clinically, intense pruritus on a background of inherited skin fragility often leads to skin signs that resemble acquired inflammatory disorders such as hypertrophic lichen planus (LP) or nodular prurigo. Moreover, symptoms and signs may not appear until adult life, further compounding difficulties in distinguishing between inherited or acquired skin pathology. We describe a 61-year-old white British woman who developed EBP during her 40s, with lichenified plaques on the legs that resembled hypertrophic LP. Molecular screening of the COL7A1 gene showed a novel heterozygous glycine substitution in type VII collagen, designated p.G2290A, in keeping with dominant dystrophic EB. During her 50s, however, the patient developed new abnormalities with patchy scarring alopecia and perifollicular inflammation. Histological examination of a skin biopsy found features of lichen planopilaris. To our knowledge, this is the first example of a patient with EBP in whom the genetic disease does not merely resemble LP but is actually associated with coexisting acquired lichenoid skin pathology. Intriguingly, treatment with topical tacrolimus 0.03% led to marked improvement in the inflammation on the legs but had little effect on the scalp.
瘙痒性大疱性表皮松解症（EBP）是显性或偶为隐性、营养不良性大疱性表皮松解症（EB）的一种临床变异型。临床上，在遗传性皮肤脆弱的背景下出现强烈瘙痒，常导致皮肤出现类似于获得性炎症性疾病的体征，如肥厚性扁平苔藓（LP）或结节性痒疹。此外，症状和体征可能直到成年后才出现，这进一步增加了区分遗传性或获得性皮肤病理学的难度。我们描述了一位 61 岁的白人英国女性，她在 40 多岁时患上了 EBP，腿部出现了苔藓样斑块，类似于肥厚性 LP。COL7A1 基因的分子筛查显示，VII 型胶原中的一种新型杂合甘氨酸取代，命名为 p.G2290A，符合显性营养不良性 EB。然而，在她 50 多岁时，患者出现了新的异常，伴有斑片状瘢痕性脱发和毛囊周围炎症。皮肤活检的组织学检查发现了扁平苔藓样的特征。据我们所知，这是首例 EBP 患者，其遗传疾病不仅类似于 LP，而且实际上与并存的获得性苔藓样皮肤病理学有关。有趣的是，外用他克莫司 0.03%治疗导致腿部炎症明显改善，但对头皮几乎没有影响。
