Alberto Mota

Angiokeratomas of Fabry successfully treated with intense pulsed light.

Fabry disease (FD) is a rare X‐linked lysosomal storage disorder resulting from the deficient activity of the enzyme α‐galactosidase A. Angiokeratomas (AKs) are a frequent manifestation of this disease. They usually become apparent during childhood and can cause important cosmetic disability. Current treatment of this feature in the setting of FD has been mainly based on the application of laser systems, namely the argon laser, the variable pulse width 532‐nm Nd:YAG laser, the 578‐nm copper vapor laser and the flashlamp‐pumped pulsed dye laser. We report the case of a 31‐year‐old Caucasian woman with a clinical and molecular (GLA p.R118C) diagnosis of FD, presenting multiple AKs scattered over the buttocks and thighs. She was treated with 10 sessions of intense pulsed light (IPL), with a 4–8‐week interval between them. An almost complete clearance of the lesions was obtained, with no scars or significant complaints. No recurrence occurred during a 12‐month follow‐up period. The IPL source can be considered a suitable, effective and safe treatment modality for these cutaneous lesions that typically affect patients with FD, with no need for local anesthesia and with very satisfactory cosmetic results. To our best knowledge, there are no reports in the literature of Fabrys AKs treated with IPL.

Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation

We report the case of a 12-year-old girl presenting at birth with erythroderma, erosions and blisters scattered over the integument. By the age of 3 she presented generalized hyperkeratotic plaques with a cobblestone pattern and a pungent odour, most prominently around flexures, scalp and palmoplantar areas. Clinical, histological and ultrastructural findings confirmed the diagnosis of epidermolytic hyperkeratosis (EHK). Molecular genetic analysis revealed a mutation in the KRT10 gene. Treatment with oral acitretin was attempted but it was discontinued due to hepatic dysfunction and marked desquamation and blistering. EHK is a rare autosomal dominant disorder of keratinization, caused by mutations in either the KRT1 or KRT10 genes. Although palmoplantar keratoderma is typically found in patients with KRT1 mutation, our patient presents EHK with palmoplantar involvement and KRT10 mutation. Moreover, a poor response to systemic retinoids was observed, contrary to what is expected in patients with KRT10 mutation. Even though management is usually unsatisfactory, some patients with this lifelong and serious condition may experience improvement with age.

UNILATERAL LATEROTHORACIC EXANTHEM AND PRIMARY EPSTEIN-BARR VIRUS INFECTION: CASE REPORT

Unilateral laterothoracic exanthem is a self-limited disease that occurs most commonly in children. It is characterized by unilateral exanthem, often in axillary region. The etiology is unknown, but a viral agent is suspected. We report a 1-year-old white girl with unilateral laterothoracic exanthem associated with Epstein Barr virus infection, suggesting this virus has a possible etiologic role.

Acute hemorrhagic edema of childhood after H1N1 immunization

Acute hemorrhagic edema (AHE) is an uncommon self-limited disorder affecting young children triggered by infection, drugs, or immunization. A 2-year-old boy was observed due to sudden onset of painful and edematous purpuric papular and plaque lesions of the face and upper extremities that started 2 weeks after H1N1 immunization. The patient also developed exuberant edema on the face and dorsum of the hands. Complete blood count, biochemistry, and urinalysis results were normal. Histopathological examination revealed perivascular and periadnexial lymphocytic infiltrate with neutrophils and eosinophils, and leukocytoclastic vasculitis. Blood PCR technique was negative to several viruses, namely adenovirus, cytomegalovirus, Epstein Barr, enterovirus, HHV6, parvovirus B19, and H1N1. Symptomatic treatment and parents reassurance was promptly provided. However, new lesions continued to develop and in this setting systemic corticosteroid was prescribed. Complete clinical resolution was achieved within 2 weeks and no relapse was observed. The temporal relationship with H1N1 immunization, absence of previous drug intake, as well as exclusion of viral infections led the authors to propose that H1N1 vaccine was the predisposing factor in AHE development in our patient. To our best knowledge, this is the first reported association between AHE and H1N1 immunization.

Antineutrophil cytoplasmic antibody (ANCA)-positive cutaneous leukocytoclastic vasculitis induced by propylthiouracil confirmed by positive patch test: a case report and review of the literature.

A 43-year-old female with antiphospholipid syndrome and Graves’ disease developed a cutaneous leukocytoclastic vasculitis associated with antineutrophil cytoplasmic antibody (ANCA) against myeloperoxidase (MPO-ANCA) and proteinase-3 (PR3-ANCA), whilst treated with propylthiouracil (PTU). The skin lesions were progressively resolved after withdrawal of PTU and treatment with oral steroids. Patch testing with PTU at 1%, 5%, and 10% in petrolatum was positive at 48 h. Despite positive ANCA titers after 1 year of follow-up, the patient maintains complete clinical remission. PTU is a common antithyroid drug, which has been known to induce ANCA-positive vasculitis. Although most patients with this rare side effect have a good outcome, some fatal cases have been reported. Therefore, patients treated with PTU should be carefully followed and monitored, not only for their thyroid state but also for early detection of potential serious complications of this drug. Early diagnosis and prompt cessation of PTU therapy are essential to improve the outcome. Also key aspects of PTU-induced ANCA-positive vasculitis are reviewed.

Nonpigmented fixed drug eruption induced by esomeprazole.

A 56-year-old white woman developed a distinctive skin eruption over her mammary, lumbosacral, and pubic areas 2 weeks after the start of esomeprazole therapy for dyspeptic symptoms. Skin biopsy disclosed a spongiotic dermatitis with predominantly lymphocytic dermal infiltrate. Treatment with a tapering dose of corticosteroid and withdrawal of the suspected drug led to a rapid resolution of the eruption without residual dyschromia. Patch testing with esomeprazole 2% in petrolatum was negative at 48 and 72 hours but became positive on day 6. Oral-controlled provocation test induced the reappearance of the lesions over the mammary areas, confirming the putative involvement of this drug. Therefore, the patient was diagnosed as having a nonpigmented fixed drug eruption associated with esomeprazole. This compound is a proton-pump inhibitor developed as the S-isomer of omeprazole to improve its pharmacokinetic properties. Reports of cutaneous reactions to proton-pump inhibitors are quite common, but reports of such reactions to esomeprazole are rare, which demonstrates the need for higher clinical awareness and knowledge of reactions to these drugs.

Erythema multiforme-like lesions revealing allergic contact dermatitis to exotic woods

We report a 45-year old man who developed maculopapular exanthema on the inferior cervical folder, axillae and umbilicus, as well as erythema multiforme-like lesions on the wrists after the introduction in his work of pao ferro (Machaerium scleroxylon). Patch tests were positive to pao ferro and ebony. This case highlights the importance of patch tests for the confirmation of the culprit agent in occupational dermatoses and also to identify other occupational allergens that the patient should avoid. Tropical woods contain quinones that could explain the possible cross-reactions between woods belonging to different families.

Symmetrical drug-related intertriginous and flexural exanthema (SDRIFE) induced by telmisartan–hydrochlorothiazide

Symmetrical drug-related intertriginous and flexural exanthema (SDRIFE) is a drug-related eruption that characteristically involves the intertriginous or flexural folds and gluteal areas. We report the case of a 48-year-old woman with the presence of a sharply demarcated erythema of the inferior cervical folds, axillae, and gluteal area that started 4 days after the introduction of telmisartan–hydrochlorothiazide administration to treat hypertension. Skin biopsy revealed a dense perivascular and periadnexal lymphohistiocytic infiltrate in the superficial dermis, with some eosinophils and mast cells. A cutaneous drug adverse reaction was suspected, administration of telmisartan–hydrochlorothiazide was suspended, and medium-potency topical corticosteroids were prescribed, with subsequent significant improvement of the lesions. Eight months later, epicutaneous patch tests were performed in previously lesional and nonlesional skin. To the best of our knowledge, this is the first case of SDRIFE related to telmisartan–hydrochlorothiazide and illustrates an uncommon presentation of a skin-related drug reaction to an antihypertensive medication and the role of the dermatologist in diagnosis and management, in particular in follow-up of the patient.

Recurrent wells’ syndrome associated with allergic asthma exacerbation

Wells syndrome is an inflammatory eosinophilic dermatosis of unknown pathogenesis characterized by clinical polymorphism, a suggestive but nonspecific histopathologic traits, usually with a recurrent course and inconstant response to therapy. It seems to be an unspecific hypersensitivity reaction in response to various exogenous and endogenous stimuli, such as insect bites, infections, drug eruption or underlying internal disorders. We present a patient with allergic asthma and atopic dermatitis in whom a skin eruption developed in the sequence of allergic asthma exacerbation, which was clinically and histologically consistent with the diagnosis of eosinophilic cellulitis. The authors discuss the probability of a common pathogenesis and the role of IL-5. To our best knowledge this is the first pediatric case where this association is reported.

Interaction between α2-autoreceptors and receptors mediating the effects of angiotensin II and bradykinin in the heart of newborn rats

The interaction between alpha2-autoreceptors and receptors for angiotensin II and bradykinin was studied in the heart of newborn rats. The tissues were labelled with [3H]noradrenaline and then superfused with cocaine-containing medium and stimulated electrically. Angiotensin II (10-300 nM) and bradykinin (3-100 nM) enhanced the evoked overflow of tritium, the maximum increase reaching 63.2% and 87.1%, respectively. Blockade of alpha2-adrenoceptors by 100 nM yohimbine reduced, and that by 1 microM abolished, the effect of both angiotensin II and bradykinin. On the contrary, chelerythrine and staurosporine--blockers of protein kinase C--as well as forskolin, an activator of adenylyl cyclase and a blocker of phosphodiesterase, markedly enhanced the facilitatory effect of angiotensin II and bradykinin. We conclude that: (1) alpha2-autoreceptors are present in the heart of newborn rats which interact with prejunctional receptors for angiotensin II and bradykinin also present in the rat heart at that age; (2) the facilitatory influence of chelerythrine and staurosporine on the one hand and that of forskolin on the other hand suggests a link between protein kinase C and cyclicAMP pathways.