Illustrations
Figure 1
A , B , C ) Clinical findings of patients. A) Palmar area of Patient 3 after immersion in water showing a widely macerated aspect of the left hand with whitish and hyperkeratotic cobblestone-like papules. B) Physical examination of Patient 7 in basal conditions showing hyperhidrosis, hyperlinearity, and mild diffuse hyperkeratosis with well-demarcated erythema and macerated papules, mainly located on the margins of the palms. C) Palmar area of the father of Patient 7 after a brief contact with warm water showing hypopigmented, whitish and transluscent papules and plaques on the right palm, associated with a widespread and well-defined palmar erythema. D , E ) Histological section of skin biopsy from Patient 4 taken after WIT; microscopic examination of the left palm demonstrates compact orthokeratotic hyperkeratosis of the stratum corneum and acanthosis with dilated and tortuous acrosyringium (hematoxylin and eosin stain; [D ] 4× magnification, [E ] 10× magnification). F , G) Histological section of skin biopsy from Patient 7 taken after WIT; microscopic examination of the left palm shows orthokeratotic hyperkeratosis, hypergranulosis, and acanthosis of the epidermis (hematoxylin and eosin stain; [F ] 10× magnification, [G ] 40× magnification). H , I , J , K , L , M ) IHC staining for AQP3 in a healthy patient ([H ] 20× magnification, [I ] 40× magnification), Patient4 ([J ] 20× magnification, [K ] 40× magnification), and Patient 7 ([L ] 20x magnification, [M ] 40× magnification).
Figure 1
Auteurs
1 Department of Health Sciences,
2 Department of Translational Medicine, A. Avogadro University of Eastern Piedmont, Novara, Italy
3 Maternal Infant Department, Castelli Hospital, Verbania, Italy
4 Medical Genetics Unit, City of Health and Science, Turin, Italy
5 AOU Maggiore della Carità Hospital, Novara, Italy
Aquagenic keratoderma (AK) is an uncommon dermatosis characterized by transient eruptions of translucent palmar-plantar papules and plaques, triggered by contact with sweat or water [1]. Sporadic cases occur often in young women, frequently associated with intake of COX-2 inhibitors [1]. However, several autosomal dominant or recessive hereditary cases have been described; about one third of which are associated with germline mutations of the CFTR gene (cystic fibrosis transmembrane conductance regulator), [...]