Familial Aquagenic Urticaria and Bernard-Soulier Syndrome

Pitarch, Gerard; Torrijos, Arantxa; Martı́nez-Menchón, Teresa; Sánchez‐Carazo, J.L.; Fortea, José M.

doi:10.1159/000089035

Cited by 21 publications

(18 citation statements)

References 6 publications

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“…Familiar cases of aquagenic urticaria and Bernard-Soulier syndrome have been described [94]. Bernard-Soulier syndrome is a rare bleeding disorder, mostly inherited in an autosomal-recessive pattern, characterized by defects of the GPIb-IX-V complex, a platelet receptor for von Willebrand factor, thrombocytopenia, giant platelets and the absence of ristocetin-induced platelet aggregation.…”

Section: Platelets In Chronic Inducible Urticariamentioning

confidence: 99%

The Role of Platelets in Chronic Urticaria

Veña¹,

Cassano

Marzano

et al. 2016

Int Arch Allergy Immunol

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Background: Platelets are implicated in many pathophysiological processes, including inflammation and immunity. Ever-growing evidence suggests the active involvement of platelets in the pathogenesis of various inflammatory disorders, including cutaneous inflammatory diseases. A limited number of studies have investigated the role of platelets in chronic urticaria (CU). In this review, we summarize the current knowledge regarding the role of platelets in chronic spontaneous and inducible urticarias. Methods: A literature search was performed using PubMed and Google Scholar, and the references of relevant literature were reviewed. Results: Overall, in CU patients, conflicting results have been obtained from the assessment of platelet indices, such as mean platelet volume, platelet count and distribution width, as well as markers of platelet aggregation and activation. Nevertheless, a few studies showed significant changes of such parameters in CU patients compared to controls, in apparent correlation with clinical severity, autoreactivity and/or inflammatory status. Conclusions: In the absence of definitive conclusions, the pathogenic role of platelets in CU needs to be further explored. Platelets might represent a link between inflammation, coagulation and histamine release in the pathophysiological network of CU.

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Section: Platelets In Chronic Inducible Urticariamentioning

confidence: 99%

The Role of Platelets in Chronic Urticaria

Veña¹,

Cassano

Marzano

et al. 2016

Int Arch Allergy Immunol

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“…A possible association with familial lactose intolerance has been suggested by appearance of characteristic lesions in cases over 3 generations [11]. Lesions of aquagenic urticaria more intense on saline or hot water exposure were reported in 3 siblings of a family with Bernard Soulier syndrome [8]. A few cases of aquagenic urticaria with extra cutaneous manifestations and salt dependency is depicted in (Table1).…”

Section: Clinical Featuresmentioning

confidence: 99%

“…Family history of similar complaints, autoimmune and allergic disorders is to be enquired [12,35]. Appropriate questions should be asked to rule out bleeding disorders, immunocompromised state and lactose intolerance in the patient and family [8,11,23]. [10,16,37].…”

Section: Diagnosis and Work Upmentioning

confidence: 99%

“…Pruritic hives on contact with water mostly presenting for the first time during puberty in females of reproductive age is seen in aquagenic urticaria. Males are less often affected [8,9,10]. Even if majority cases are sporadic in nature, familial cases are also recorded [8,11,12].…”

Section: Introductionmentioning

confidence: 99%

“…Males are less often affected [8,9,10]. Even if majority cases are sporadic in nature, familial cases are also recorded [8,11,12]. Water in all forms such as tap or sea water, swimming pool, sweat, tears, saliva can induce the lesions [13,14,15].…”

Section: Introductionmentioning

confidence: 99%

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Aquagenic Urticaria: A Review of Literature and Case Reports

2014

J Turk Acad Dermatol

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Background: Hypersensitivity to specific stimulus presenting as pruritic wheals is pathognomonic of urticaria, a common malady worldwide, but such vulnerability to water is a rare and a distressing phenomenon requiring considerable lifestyle modifications. Aquagenic urticaria, a rare subtype of urticaria is most probably an allergic response to water. Though histamine is the most potent mediator of the phenomenon, a few reports implied that acetylcholine and genetic predisposition also plays a crucial role in the pathogenesis. Till date only a limited number of case reports are available worldwide with indefinite etio-pathogenesis and treatment guidelines. Therefore it is of utmost importance to summarize the available theranostics to provide guidance for the management of the condition and explore the future possibilities in light of recent advancements in understanding the pathophysiology of the disease. We attempt to describe the pathogenesis, case reports to the best of our knowledge and available treatment options from the literature.

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Aquagenic urticaria: Water, friend, or foe?

Robles‐Tenorio

Tarango-Martínez

Sierra-Silva

2020

Clinical Case Reports

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Water, one of the fundamental symbols of life, can become a nuisance for some individuals. Aquagenic urticaria (AU) is an extraordinary type of physical or chronic inducible urticaria (CI-U) elicited by water exposure. With around 100 cases been described in the literature, the disease has received little to no attention by the scientific community. Presently, pathogenesis remains unknown. The diagnosis is supported by clinical history and confirmed by provocation tests, which include the discrimination from other CI-Us. Since trigger avoidance is nearly impossible, treatment is based on symptomatic control. Here, we present the first case of sporadic AU in Mexico, as well as an updated revision of the relevant literature. This work contributes to the scant reports documented in the Latin-American population. 1,2 Our patient showed an adequate therapeutic response to a second-generation antihistamine and a skin barrier-repairing cream. Treatment efficacy was assessed by applying two validated questionnaires aimed at measuring disease-related symptom severity and quality of life (QoL). 2 | CASE REPORT An otherwise healthy 53-year-old Mexican female patient presented with a 40-year history of generalized pruritus and wheal formation during bathing and dishwashing, which lasted for 30-60 minutes after ceasing water contact. The patient had been previously self-treated with unspecified cleansers, soaps, and commercial creams, noting variable but insufficient relief. Symptoms did not occur during physical activity, emotionally stressful situations, or exposure to temperature changes. Angioedema and dyspnea had never been present during active disease or under any other circumstance. The patient denied previous history of asthma, atopy, or allergies. No family members were affected. On physical examination, skin appeared clear and dermographism was negative. In order to induce the appearance of lesions, water-provocation tests were performed according to current recommendations. 3-6 Wet compresses were applied for 20 minutes, yielding a negative result. Next, in-office water immersion of the right arm was performed. After 5 minutes, multiple wheals, intense erythema, and pruritus developed over the wet area (Figure 1). Cold and heat urticaria were excluded by exposing the patient to an icepack and a heating pad, as per suggested by urticaria guidelines. 3,4,6 Testing for other types of CI-Us was omitted based on the history of present illness and the positive water-challenge test. Accordingly, the diagnosis of sporadic AU was established. Symptomatic treatment was initiated with cetirizine 10 mg daily and frequent use of a ceramide-containing moisturizing cream. After 1 month of treatment, cetirizine was

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Familial Aquagenic Urticaria and Bernard-Soulier Syndrome

Cited by 21 publications

References 6 publications

The Role of Platelets in Chronic Urticaria

The Role of Platelets in Chronic Urticaria

Aquagenic Urticaria: A Review of Literature and Case Reports

Aquagenic urticaria: Water, friend, or foe?

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