[Nagashima-type palmoplantar keratoderma: A little-known palmoplantar keratoderma in Europe]. / Kératodermie palmo-plantaire de Nagashima : une kératodermie palmo-plantaire méconnue en Europe.

BACKGROUND: Herein we present a case of palmoplantar keratoderma (PPK) in a young adopted girl of Chinese origin living in France. OBSERVATION: The patient, aged six years, had presented transgressive PPK since birth, as well as erythema progressing in congestive inflammatory episodes, palmoplantar hyperhidrosis and progressive characteristics (moderate hyperkeratosis in areas of rubbing other than the palms and soles, namely the elbows and knees). Histopathological examination of a skin biopsy revealed a thick epidermis with lengthening and thickening of crests. The epithelium displayed a thick granular layer. Electron microscopy showed hyperorthokeratosis with hypergranulosis and loss of lamellar structure of the keratinosomes, as well as cleavage between corneocytes. Molecular studies showed the presence of two composite heterozygous mutations of the SERPINB7 gene, enabling a diagnosis of Nagashima-type PPK (NPPK) to be made. DISCUSSION: NPPK is an autosomal recessive disease caused by a mutation in the SERPINB7, a member of the superfamily of serine protease inhibitors. It was described by Nagashima in 1977 with molecular characterisation by Kubo following in 2013. It is the most widespread form of PPK in Asia (with a prevalence of 1.2/10,000 in Japan and 3.1/10,000 in China). It is distinguished from the other PPKs in terms of transgressive soft hyperkeratosis, inflammatory episodes and hyperhidrosis, as well as by its non-progressive nature. In the present case, while the clinical presentation was characteristic, diagnosis was only made thanks to sequencing of a panel of over 50 genes responsible for PPK. The disease is effectively little-known in Europe. This study highlights the increasing importance of diagnostic investigation methods involving the use of gene panels.

[Aquagenic palmoplantar keratoderma during treatment of Langerhans cell histiocytosis]. / Kératodermie palmo-plantaire aquagénique au cours du traitement d'une histiocytose langerhansienne.

BACKGROUND: Aquagenic palmoplantar keratoderma (APPK) is characterised by whitish oedematous papules, sometimes itchy or painful of rapid onset following immersion of the palms and/or soles in water. We report a case that was atypical in terms of the secondary appearance of persistent fine desquamation. PATIENTS AND METHODS: A 6-year-old girl presented with typical APPK, present for three months and characterised by swelling, skin wrinkling, hyperhidrosis and secondary desquamation of the palms and soles, and which occurred after bathing. The patient had been treated with vinblastine, mercaptopurine and oral corticosteroids for Langerhans cell histiocytosis ongoing for six months. Physical examination revealed persistent fine desquamation of the palms and soles, occurring some time after immersion in water. There was no mutation of the CFTR gene. No similar cases could be found in the pharmacovigilance database. Topical therapy with an emollient provided some relief. Symptoms had partially resolved two months after discontinuation of chemotherapy and oral corticosteroids. DISCUSSION: Cases of unilateral palmar damage involving unusual sites have been reported. Neither secondary desquamation nor association with Langerhans cell histiocytosis have been described. Hyperhidrosis and association with 1 or 2 CFTR mutations appear to constitute predisposing factors. There are cases of APPK related to anti-inflammatory intake. In view of the clinical course, an iatrogenic origin cannot be excluded in this case. CONCLUSION: Persistent fine palmoplantar desquamation may be a manifestation of APPK.

[Ainhum and "African acral keratoderma": three cases]. / Aïnhum et « kératodermies acrales africaines ¼ : trois cas.

BACKGROUND: Ainhum, or spontaneous dactylitis, involves the formation of a gradual constriction in the digital-plantar fold of the fifth toe that leads, after several years, to autoamputation of the digit. This condition is classically distinguished from "true" ainhum, of unknown aetiology and affecting only subjects of African origin, from "pseudo-ainhum", resulting from different causes such as inflammatory constriction or constriction by a foreign body, and finally from ainhumoid palmoplantar keratoderma, which is of genetic origin and occurs for instance in Vohwinkel syndrome. Herein, we report three cases of ainhum in women of sub-Saharan African origin; in addition, all three subjects were also presenting various forms of hyperkeratosis of the hands and feet known to primarily affect subjects of African origin. PATIENTS AND METHODS: The three patients, aged 30, 48 and 44 years, were respectively from Mali, Guinea and Senegal. They had consulted a dermatologist for violent pain in the fifth toe, which frequently prevented sleep and was inexplicable despite several consultations, and even in one case in spite of surgical investigation. Once the diagnosis had been made, relief was promptly provided for all three patients through Z-plasty to remove the circular constriction around the toe in question. In addition to ainhum, the first patient was also presenting diffuse palmoplantar keratoderma, together with an aspect of acrokeratoelastoidosis on the edges of her hands and feet, and knuckle pads, while the second was presenting diffuse palmoplantar keratoderma and an aspect of marginal acrokeratoelastoidosis, and the third was presenting small knuckle pads. DISCUSSION: A recent study has confirmed the high incidence of several forms of palmoplantar keratoderma of African origin, as well as frequent association of these different varieties with one another. These consist of diffuse keratoderma having a relatively non-specific aspect, keratoderma punctata of the palmar creases, marginal keratoderma known also as focal acral hyperkeratosis, and acrokeratoelastoidosis, despite the absence of histological evidence, and finally, inverted keratoderma, i.e. affecting the dorsal aspects of the extremities, such as knuckle pads. In the three cases presented here, ainhum was associated with these different forms of acral keratoderma seen chiefly in subjects of African origin. CONCLUSION: So-called "true" ainhum may be included in a broader group of African acral keratoderma, further reinforcing the unity of this group. Genetic studies are required to enable validation and refinement of these clinical findings.

[Palmoplantar neutrophilic eccrine hidradenitis with general extension in a child in remission after acute lymphoblastic leukemia]. / Hidradénite eccrine neutrophilique palmo-plantaire avec extension généralisée chez un enfant en rémission d'une leucémie aiguë lymphoblastique.

BACKGROUND: Neutrophilic eccrine hidradenitis (NEH) is a form of neutrophilic dermatitis characterized by tender erythematous and painful papules involving the trunk, extremities and face. The generalized form is associated with malignant hemopathies. The palmoplantar form occurs in children without any context of malignancy. Histology shows a neutrophilic infiltrate surrounding and infiltrating the eccrine glands associated with vacuolar degeneration and necrosis of the epithelial secretory portion. PATIENTS AND METHODS: We report the case of a 4-year-old girl with palmoplantar HEN progressing to the generalized form while in remission from acute lymphoblastic leukemia. DISCUSSION: Progression of HEN from the palmoplantar form to the generalized form has never been published previously in the literature.

[Palmoplantar keratoderma: a rare manifestation of myxoedema]. / Kératodermie palmo-plantaire : une manifestation rare du myxœdème.

BACKGROUND: Herein we report a rare case of acquired palmoplantar keratoderma in association with myxoedema and hypothyroidism. PATIENTS AND METHODS: A 53-year-old woman presented with palmoplantar keratoderma, dry skin, muscular weakness and cramps for 9 months. The laboratory work-up revealed autoimmune thyroiditis with hypothyroidism. Skin biopsy showed chronic eczema. Other causes of acquired palmoplantar keratoderma were ruled out. Rapid improvement was achieved within 3 weeks of institution of hormone replacement therapy. DISCUSSION: Although this association is very rare, hypothyroidism must be suspected in patients with acquired palmoplantar keratoderma, particularly when it occurs in association with systemic symptoms.