1578 Correspondence 6 Ingram JR, Piguet V. Phenotypic heterogeneity in hidradenitis suppurativa (acne inversa): classification is an essential step toward personalized therapy. J Invest Dermatol 2013; 133:1453–6. 7 Marzano AV, Trevisan V, Gattorno M et al. Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene. JAMA Dermatol 2013; 149:762–4. 8 Braun-Falco M, Kovnerystyy O, Lohse P, Ruzicka T. Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) – a new autoinflammatory syndrome distinct from PAPA syndrome. J Am Acad Dermatol 2012; 66:409–15.

tion. We believe a multidisciplinary approach encompassing genetics, immunology, histopathology and clinically led research will expedite refinement of the current phenotypic classification of HS. 1

Department of Dermatology, King’s College Hospital, Denmark Hill, London SE5 9RS, U.K. 2 St John’s Institute of Dermatology, Guy’s and St Thomas’ NHS Foundation Trust, London, U.K. E-mail: [email protected]

B. MORIARTY1 A. PINK2 D. CREAMER1 N. DESAI2

Funding sources: none. Conflicts of interest: none declared.

References 1 Alzaga Fernandez AG, Demirci H, Darnley-Fisch DA, Steen DW. Interstitial keratitis secondary to severe hidradenitis suppurativa: a case report and literature review. Cornea 2010; 29:1189–91. 2 Pink AE, Simpson MA, Desai N et al. c-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis. J Invest Dermatol 2013; 133:601–7. 3 Canoui-Poitrine F, Le Thuaut A, Revuz JE et al. Identification of three hidradenitis suppurativa phenotypes: latent class analysis of a cross-sectional study. J Invest Dermatol 2013; 133:1506–11. 4 Alikhan A, Lynch PJ, Eisen DB. Hidradenitis suppurativa: a comprehensive review. J Am Acad Dermatol 2009; 60:539–61. 5 Karvonen SL. Acne fulminans: report of clinical findings and treatment of twenty-four patients. J Am Acad Dermatol 1993; 28:572–9.

(a)

Ultraviolet-induced linear IgA bullous dermatosis: a case report and literature survey DOI: 10.1111/bjd.13154 DEAR EDITOR, Linear IgA bullous dermatosis (LABD) is an autoimmune blistering disorder mediated by IgA autoantibodies against leucocyte adhesion deficiency (LAD)-1, a domain of the BP180 antigen in the basement membrane zone (BMZ).1 Most cases are idiopathic; however, the role of different triggering agents has been well documented, including

(b)

(d)

(c)

(e)

Fig 1. (a–c) Clinical characterization of the patient. Numerous tense vesicles and blisters, some of them showing annular arrangement localized on (a) the forehead, (b) the chest and (c) the upper back. (d, e) Laser scanning confocal microscopy study. Linear IgA deposits (shown in green) are located below laminin-332 (red) (d), and above type IV collagen (red) (e). British Journal of Dermatology (2014) 171, pp1555–1608

© 2014 British Association of Dermatologists

© 2014 British Association of Dermatologists

6

M/48

F/33

Girao (2000)7

Pellicano (1997)5

Boiling methanol Sodium hypochlorite UVB

UVA

UV

UV

Physical and irritant triggering factors

Allergy to nickel and chrome, dying hair black, amoxicillin

Not done

Colon cancer, digoxin, isosorbide mononitrate, allopurinol Not done

Analgesics, propyphenazone, butalbital, caffeine Zoster treated with aciclovir orally

Coexisting factors

‘Shortly after an accidental contact’ 14 days

1 month

Not done

3 days

3 days

Time to lesion development

DIF: IgA, C3 along BMZ. IIF: negative. NaCl-split skin: IgA+. IB: 180-kDa IgA DIF: IgA along BMZ. IIF: IgA+ along BMZ. IB: BP180-kDa IgA. LSCM: IgA deposits below laminin-332 and above type IV collagen. Phototesting: MED for UVB below normal range

DIF: IgA+ along BMZ. IIF: negative. IB: negative. Phototesting: UVA sensitivity in photoprovocation test DIF: IgA+. IIF: negative

DIF: IgA+, C3+ along BMZ. IIF: IgA along the BMZ

DIF: IgA+ along BMZ. IIF: negative. IB: 120-kDa IgA

Diagnostic procedures

1

per day

Dapsone 100–50 mg per day, prednisone 15 mg per day, clobetasol propionate lesionally

Tetracycline 15 g per day; niacinamide 15 g per day; dapsone 100 mg per day; clobetasol propionate lesionally Dapsone 50 mg per day ? 200 mg per day, prednisolone 5 mg per day Methylprednisolone 1 mg kg 1 per day Dapsone 100 mg per day

Prednisone 1 mg kg

Therapy

7 years

1 year

Not done

Two relapses (1 month)

2 years

5 years

Remission

F, female; M, male; BMZ, basement membrane zone; DIF, direct immunofluorescence, IB, immunoblotting; IIF, indirect immunofluorescence; LSCM, laser scanning confocal microscopy; MED, minimal erythemal dose; UV, ultraviolet.

F/29

M/68

Salmhofer (2004)3

Current case

M/67

F/45

Sex/age (years)

He (2007)4

Pellicano (2006)

Study

Table 1 Characterization of patients with linear IgA bullous dermatosis triggered by physical and irritant agents

Correspondence 1579

British Journal of Dermatology (2014) 171, pp1555–1608

1580 Correspondence

infections and drugs such as vancomycin and nonsteroidal anti-inflammatory drugs.2 In contrast, there are only a few reported cases of LABD provoked by irritant agents, such as ultraviolet (UV) radiation or chemicals.3–7 Here we report a 29-year-old Polish woman, a professional hairdresser who had hand eczema for 5 years and a 2-week history of bullous eruptions. Physical examination revealed numerous tense vesicles and blisters with pruritus, some of which showed annular arrangement, on the scalp, forehead, chest and upper back (Fig. 1a–c). The patient was exposed to UV several times before development of blisters. The patient had also taken amoxicillin for infection of the upper respiratory tract 3 weeks earlier, and had dyed her hair black 2 weeks previously. Initially, the patient was diagnosed with photodermatosis and treated with topical corticosteroids, but without success. Therefore, a skin biopsy and blood sample were obtained following signed informed consent. Direct immunofluorescence showed linear deposition of IgA at the BMZ, but neither IgG nor C3. Fluorescence overlay antigen mapping using laser scanning confocal microscopy (LSCM) disclosed IgA deposits above type IV collagen and above laminin-332 (Fig. 1d,e). Indirect immunofluorescence disclosed circulating IgA, but not IgG, anti-BMZ antibodies at a titre 1 : 10. Immunoblotting of normal human epidermal extract showed reactivity of IgA antibodies with BP180. Phototesting showed that the minimal erythemal dose (MED) for UVB was 0045 J cm 2. This value is below the normal range of 006 J cm 2 in our laboratory. The MED for UVA was within the normal range, at 10 J cm 2. Based on these findings, the diagnosis of UV-induced LABD was made. Dapsone 100 mg daily and topical clobetasol propionate were initiated. One month later, the dose of dapsone was reduced to 50 mg daily because of methaemoglobinaemia, and oral prednisone 15 mg daily was added. Under the therapy, the erosions healed without scars or milia. The therapy was discontinued 6 months later. No recurrence of blisters was observed during a 7-year follow-up. In the present case the patient developed blisters on sunexposed areas after UV exposure. In addition, the patient had also been exposed to black hair dye and treated with amoxicillin a few days before eruptions appeared. Both factors are known to be responsible for allergic disorders, including contact eczema and postmedication reactions. Therefore, based on the patient’s clinical features and past history, she was initially considered to show a phototoxic or photoallergic reaction and was treated with topical clobetasol propionate without improvement. Notably, our case showed targetoid lesions of vesicles and blisters on normal-appearing skin, whereas phototoxic reaction usually shows erythemas and vesicles with pain and stinging, and photoallergic reaction tends to result in pruritic eczematous eruptions with lichenification.8 Moreover, in phototoxic or photoallergic reaction, the MED for UVA decreases, and that for UVB is within the normal range.8 In contrast, our case showed hypersensitivity to UVB. Therefore, these results indiBritish Journal of Dermatology (2014) 171, pp1555–1608

cated the diagnosis of LABD rather than phototoxic or photoallergic reaction. All reported cases of UV-related LABD (Table 1) developed skin lesions 3 days to 1 month after the exposure. Most cases of drug-induced LABD developed skin lesions shortly after drug intake, while other patients developed eruptions a few months later.2 Our patient took amoxicillin, which might play a role in the initiation of the autoimmune process, as it was previously shown that drugs may disturb the integrity of the BMZ, leading to exposure of BMZ antigens to the immune system and resulting autoantibody production.2 However, this is not the likely pathomechanism in patients with LABD, who developed skin lesions just after exposure to UV. Therefore, it is intriguing that all patients with UV-induced LABD had long-lasting additional factors. It is conceivable that UV triggers skin lesions in individuals who are predisposed by an immune system that has been disturbed by other cofactors. Another possible mechanism is epitope spreading phenomenon.9 In only three of six published patients could the diagnosis of LABD be established on the basis of the reactivity of circulating IgA antibodies, with the 120-kDa LAD-1 in two cases and a 180-kDa IgA detected by immunoblotting in one case.5,6 In cases with no detectable circulating antibodies, LSCM has been shown to have diagnostic value.10 LSCM performed in our case disclosed IgA deposits above type IV collagen and laminin-332 – a characteristic localization in lamina lucida-type LABD. In all five previous cases the therapy rapidly improved the skin lesions. This confirmed that LABD with underlying provoking factors was a rather more limited disease than idiopathic LABD. All patients but one were in remission with no relapses, at least for a few years (Table 1). Finally, among the two cases who underwent phototesting, one previous case showed normal reaction to both UVA and UVB,3 while our case showed hypersensitivity only to UVB. Future studies should be performed with more cases of LABD induced not only by UV but also by other aggravating agents to elucidate their pathogenic role. 1

Department of Dermatology and Immunodermatology, Medical University of Warsaw, Koszykowa 82a, 02-008 Warsaw, Warszawa, Poland 2 Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan E-mail: [email protected]

K. WOZNIAK1 A. KALINSKA-BIENIAS1 T. HASHIMOTO2 C. KOWALEWSKI1

References 1 Dmochowski M, Hashimoto T, Bhogal BS et al. Immunoblotting studies of linear IgA disease. J Dermatol Sci 1993; 6:194–200. 2 Kuechle MK, Stegemeir E, Maynard B. Drug induced linear IgA bullous dermatosis: report of six cases and review of the literature. J Am Acad Dermatol 1994; 30:187–92. © 2014 British Association of Dermatologists

Correspondence 1581 3 Salmhofer W, Soyer HP, Wolf P et al. UV light-induced linear IgA dermatosis. J Am Acad Dermatol 2004; 50:109–15. 4 He C, Xu H, Xiao T et al. Localized linear IgA dermatosis induced by UV light-treatment for herpes zoster. Int J Dermatol 2007; 46:500–2. 5 Pellicano R, Lomuto M, Cozzani E et al. Linear IgA bullous dermatosis after contact with sodium hypochlorite. Dermatology 1997; 194:284–6. 6 Pellicano R, Caldarola G, Cozzani E, Parodi A. A case of linear immunoglobulin A bullous dermatosis in a patient exposed to sun and analgesic. Clin Ther 2009; 9:1987–90. 7 Girao L, Fiadeiro T, Rodrigues JC. Burn-induced linear IgA dermatosis. J Eur Acad Dermatol Venereol 2000; 14:507–10. 8 Bylaite M, Grigaitiene J, Lapinskaite GS. Photodermatoses: classification, evaluation and management. Br J Dermatol 2009; 3:61–8. 9 Chan LS, Vanderlugt CJ, Hashimoto T et al. Epitope spreading: lessons from autoimmune skin diseases. J Invest Dermatol 1998; 110:103–9. 10 Wozniak K, Hashimoto T, Ishii N et al. Fluorescence overlay antigen mapping using laser scanning confocal microscopy differentiates linear IgA bullous dermatosis from epidermolysis bullosa acquisita mediated by IgA. Br J Dermatol 2013; 168:634–8. Funding sources: This work was supported by a grant from the National Center of Science, Poland (no. N N402 661940). Conflicts of interest: none declared.

Trichorhinophalangeal syndrome type II due to a novel 8q23.3–q24.12 deletion associated with imperforate hymen and vaginal stenosis

born by vaginal delivery at 38 weeks’ gestation with a weight of 2900 g (10th percentile), height 45 cm (3rd percentile) and occipitofrontal circumference (OFC) 32 cm (3rd percentile) (Mexican percentiles). Apgar scores were 8 and 9 at 1 and 5 min, respectively. The proband did not require special neonatal management, and her psychomotor development was within normal parameters. At the age of 12 years, she was diagnosed with imperforate hymen, severe vaginal stenosis and haematometra; she underwent hymenoplasty and vaginal dilator therapy. On physical examination, the patient showed a weight of 34 kg (< 3rd percentile), height 149 cm (< 3rd percentile) and OFC 48 cm (< 3rd percentile). She had thin and sparse hair, long face, broad forehead, sparse outer-portion eyebrows, prominent ears, long nose with bulbous tip, narrow nostrils, long philtrum, thin lip, high palate, teeth crowded with multiple cavities, slight facial asymmetry, micrognathia, long neck, short hands due to metacarpals, thin nails, prominent interphalangeal joints, small feet with brachydactyly and multiple exostoses in the distal and proximal regions of the long bones (Fig. 1). Blood and urine analyses, thyroid profile, hormonal parameters and abdominal ultrasound showed no abnormalities. Results of computed tomography of the brain and electroencephalogram were normal. The proband presented with normal intelligence evaluated through the Wechsler Intelligence Scale for Children. The patient – who normally attends secondary-level school – provided informed consent for the study. Chromosome analyses were performed by routine GTG banding at a band resolution of approximately 500. Genomic DNA (a)

(b)

DOI: 10.1111/bjd.13177 DEAR EDITOR, Trichorhinophalangeal syndrome type II (TRPS II, OMIM 150230), also known as Langer–Giedion syndrome, is a contiguous gene deletion syndrome.1 Depending on the size and position of the heterozygous deleted region, the genetic defect involves principally the TRPS1, RAD21 or EXT1 genes. TRPS II combines the clinical features of TRPS I (OMIM 190350) and multiple exostoses (OMIM 133700). It sometimes also includes the clinical features of Cornelia de Lange syndrome 4 (OMIM 614701). Hydrometrocolpos with haematometra, persistent cloaca with prune belly sequence, and other clinical findings have also been observed in TRPS II probands.2–4 Most cases of TRPS II arise de novo, and a few familial cases with an autosomal dominant pattern have been reported.1 The present study describes a Mexican woman with TRPS II and imperforate hymen, severe vaginal stenosis and haematometra. An 8q23.3– q24.12 deletion of 5464 mb was detected by array analysis; phenotype–genotype correlation was undertaken. The proband, a 19-year-old Mexican woman, was the only product of healthy, nonconsanguineous, young parents (aged 23 and 25 years). Family history was negative for intellectual disability, short stature or congenital malformations. No history of prenatal exposure to teratogens or maternal illness was recorded. Following an uneventful pregnancy, the proband was © 2014 British Association of Dermatologists

(c)

(d)

Fig 1. (a) Multiple exostoses in both ankles and brachydactyly, (b) exostoses and agenesis of the proximal region of the right fibula (arrow) and (c) haematometra (arrow). (d) Facial appearance of the proband.

British Journal of Dermatology (2014) 171, pp1555–1608

Ultraviolet-induced linear IgA bullous dermatosis: a case report and literature survey.

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