Familial hydroa vacciniforme

G.GUPTA, M.MOHAMED AND D.KEMMETTDepartment of Dermatology, Western Infirmary, Dumbarton Road, Glasgow G11 6NT, U.K.

Accepted for publication 12 August 1998

Summary Hydroa vacciniforme is a rare, idiopathic photodermatosis with an onset in childhood andcharacterized by acute vesiculation, crusting and scarring following sun exposure. Familial casesare extremely rare with only one previous report. We report a brother and sister, both of whom havedeveloped hydroa vacciniforme.

Key words: familial hydroa vacciniforme, idiopathic photodermatosis, sun exposure.

Hydroa vacciniforme (HV) was first described by Bazinin 1862.1 The disease is usually sporadic, with onset inchildhood.2,3 The eruption tends to be worse during thespring and summer months,2–4 with lesions appearingin a sun-exposed distribution, especially the malarareas, bridge of the nose, lips, ears and the dorsa ofthe hands and forearms.2,5,6 Patients usually develop anitchy, stinging, erythematous rash 15 min to 24 h aftersun exposure,2 progressing to tender papules, whichundergo vesiculation and form crusts.2,3 Healing occursin 1–6 weeks with fine varioliform scars.2 Severe casesmay show fever,2 malaise2 and ocular signs such asconjunctival involvement, photophobia, lacrimationand even corneal ulceration and scarring.6,7 Contrac-tures of the fingers and deformities of the ears and nosesecondary to scarring have also been reported.7 Thedisease usually remits spontaneously during adoles-cence but may rarely persist into adult life.4

Although the pathogenesis of HV is unknown,2

repeated exposure of patients to artificial ultraviolet(UV) A is known to reproduce symptoms followed bythe development of lesions which are clinically andhistologically indistinguishable from those producedby sun exposure and which heal with scarring.5,8,9

There is some evidence to suggest an aetiological rolefor UVB, although this is less convincing.2,5 Mostreports have shown an absence of laboratory abnorm-alities,2,3,9 although hypocomplementaemia (C3) hasbeen documented in one case.8

Case reports

We describe two patients, a brother and a sister, with atypical presentation of HV. The parents of the children

are unrelated. Although the father was phenotypicallysimilar, he was unavailable for detailed investigation.The mother had no history of a photodermatosis.

Patient 1

A 7-year-old boy presented with a 5-year history of arecurrent, mildly pruritic, blistering eruption affectinghis nose and forehead which occurred all year roundbut was more severe in the summer. The eruption beganas small papules, which later became vesicles a fewhours after 15 min of sun exposure. These burst within24 h, then crusted over and eventually healed with finevarioliform scars. The eruption could be brought on bysun exposure through window glass. The patient wason no medication and had no known contact allergies.He was otherwise well with no constitutional symp-toms. On initial examination, he had vesicles on hisnose, which subsequently healed to leave fine, depressedvarioliform scars. Apart from a number of freckles onthe nose and cheeks, the rest of the examination wasnormal.

Patient 2

A 6-year-old girl presented with a 4-year history of asimilar blistering eruption affecting her nose, which wasparticularly worse in the summer months. Like herbrother, she was on no medication and had no knowncontact allergies. Examination revealed fine varioliformscarring on the nose (Fig. 1). She also had a number offreckles on the nose and cheeks. The rest of the exam-ination was normal.

In both patients, a full blood count and liver functiontests were normal, and porphyrin studies in blood, urineand stools were negative. Antinuclear antibodies includ-

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Correspondence: G. Gupta, Department of Dermatology, WesternInfirmary, Dumbarton Road, Glasgow G11 6NT, U.K.

ing anti-Ro and anti-La were negative, as were theurinary amino and organic acid screens. Phototestingwas carried out by Dr J.Ferguson at the PhotobiologyUnit in Ninewells Hospital, Dundee. There were noabnormal immediate or delayed responses when thetwo patients were phototested with the monochromator(Bausch & Lomb, New York, U.S.A.) to UVB, UVAand visible wavebands (305 6 5 to 400 6 30 nm). Pro-vocation tests were carried out using the Dr HonleBluelight 2000 light source (UVA Light TechnologyLimited, Birmingham, UK) (high-pressure metal halidelamp with an H1 filter, emission spectrum 320–400 nm; normal subjects react at >25 J/cm2). A4 × 4 cm2 area was treated twice (24 h apart) and read-ings performed 24 h after the second irradiation. Inpatient 1, provocation tests with 2 × 25 J/cm2 UVA onthe back produced a grade II erythematous responsewith pigment. In patient 2, provocation tests with 7·6 J/cm2 UVA on the forearm produced no abnormalresponses. However, further irradiation could not betolerated due to the test site being ‘very hot and stingy’.

Discussion

HV is a rare photodermatosis. The major differentialdiagnosis includes erythropoietic protoporphyria(EPP),3,5,8,9 vesicular polymorphic light eruption(PLE),3,5 actinic prurigo,9 Hartnup’s disease,3 bullouslupus erythematosus (LE)3,5 and some forms of xero-derma pigmentosum (XP).2

Negative porphyrins in our patients exclude EPPand other porphyrias, which can mimic HV, such as

congenital erythropoietic porphyria and childhood por-phyria cutanea tarda.3 PLE usually has a later age ofonset than HV,3 although a juvenile variant (juvenilespring eruption: JSE) has been described, which predo-minantly occurs in young boys and presents withvesicles on the helices of the ears.10 Unlike HV, however,PLE and JSE are usually non-scarring.10 Actinic prurigodoes show scarring and severe cases may show involve-ment of non-sun-exposed sites such as the buttocks.11

However, the primary lesions are papules and nodulesrather than vesicles.4 Hartnup’s disease may clinicallysimulate HV but is excluded by the absence of amino-aciduria.12 Bullous LE is unlikely with a normalautoantibody profile.3 Milder forms of XP such ascomplementation group F (XPf) are characterized byrepeated episodes of erythema with scaling, freckling,mild xerosis and seborrhoeic keratosis-like lesions.13,14

Blistering is an uncommon feature and scarring doesnot seem to occur.13 Patients with XPf have demon-strated sensitivity in the UVB range (280–310 nm) butnot in the UVA range.14

Our patients demonstrated photosensitivity in theUVA wavelengths. As there were no fresh vesicles,except on initial examination, and due to the youngage of our patients, a skin biopsy was not performed.Histology of an old lesion is usually unhelpful as thepattern of inflammation and upper dermal fibrosis isnon-specific.6 Although HV is usually sporadic, there isone report in the literature of three affected sisters.15

Our two cases confirm the rare familial incidence of HVand raise the possibility of genetic determinants under-lying susceptibility to this condition.

Acknowledgments

We thank Dr J.Ferguson for phototesting our patientsand Dr A.D.Burden for advice.

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Figure 1. Fine varioliform scarring is seen, with a deeper scar justlateral to the tip of the nose (patient 2).

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12 Ashurst PJ. Hydroa vacciniforme occurring in association withHartnup disease. Br J Dermatol 1969; 81: 486–92.

13 Norris PG, Hawk JLM, Avery JA, Giannelli F. Xerodermapigmentosum complementation group F in a non-Japanesepatient. J Am Acad Dermatol 1988; 18: 1185–8.

14 Yamamura K, Ichihashi M, Hiramoto T et al. Clinical andphotobiological characteristics of xeroderma pigmentosumcomplementation group F. a review of cases from Japan. Br JDermatol 1989; 121: 471–80.

15 Annamalai R. Hydroa vacciniforme in three alternate siblings.Arch Dermatol 1971; 103: 224–5.

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