A familial case of Nagashima-type palmoplantar keratosis

ARTICLE

Auteur(s) : Satoshi Nakamizo, Kenzo Takahashi, Yoshiki Miyachi, Kenji Kabashima

Department of Dermatology, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawara, Sakyo, Kyoto, 606-8507, Japan

“Nagashima-type” keratosis palmoplantaris is characterized by transgressive and non-progressive palmoplantar keratosis (PPK), which was first described in a 1977 report from Japan [1]. Since then, about 20 cases have been reported in the Japanese literature [2] until recently, when we reported 2 cases in English [2, 3]. To date, Nagashima-type PPK has been regarded as an autosomal-recessive disease. In this report, however, we will present a familial case, occurring in a father and son, which may raise questions about whether this PPK is mediated solely through autosomal-recessive traits.

A 40-year-old man and his 5-year-old son presented with bilateral reddish, palmar hyperkeratotic lesions (figures 1 A-D). The father's lesion extended to the dorsum of the hand, but that of his son was limited to the palm. The father's soles showed erythematous hyperkeratosis but his son did not yet show any lesions. The father's manifestation had started at birth and gradually progressed until he was in his late teens, and that of his son was noted at birth and was still progressing. Both patients’ conditions were associated with hyperhidrosis on the palms and soles, with distinct odors and maceration. There was no involvement of the elbows, knees, hair, nails, or teeth. The elder patient's father and two sisters had similar lesions, but the younger patient's older sister and mother were not affected. This family had no other significant medical history. KOH tests for detecting fungus on the palms and soles were negative. A biopsy sample taken from the medial part of the father's sole showed orthokeratotic hyperkeratosis, mild hypergranulosis, acanthosis, and a mild sparse lymphocytic infiltrate in the upper dermis (figures 1 E-F). There was no evidence of viral inclusion, granular degeneration, or atypical epithelial cells. The manifestations, specifically the bilateral reddish, palmar hyperkeratotic lesions, as well as the progressive skin lesions onto the dorsum of the father's hand, suggested a diagnosis of “Nagashima-type” PPK. Therefore, we initiated the treatment of tacrolimus ointment, which controlled it efficiently.

Other diseases that must be considered in a differential diagnosis for transgressive and progressive PPK are, for example, Unna-Thost PPK, Vorner PPK, Mal de Meleda, and Greither PPK. Unna-Thost and Vorner PPKs are not transgrediens. Mal de Meleda is inherited in an autosomal recessive pattern, and frequently presents with constrictive bands, perioral erythema, nail changes, and occasional brachydactyly, with a progressive clinical course throughout the patients’ lives [4]. Greither disease is characterized by the involvement of the Achilles tendon, is inherited in an autosomal dominant pattern, and usually has a later onset than our cases had.

“Nagashima-type” PPK has been assumed to be inherited in an autosomal recessive pattern, but one paper in the Japanese literature reported a dominantly inherited case of “Nagashima-type” PPK [5], and the present cases might exhibit the same pattern. Thus both recessive and dominant inheritance of “Nagashima-type” PPK may occur.

Here we report a familial case of “Nagashima-type” PPK, possibly inherited in an autosomal dominant pattern. This is the first such report in the English literature. Additional reports and precise clinical observations, including genetic studies, will clarify the pathomechanisms underlying PPK.

Acknowledgements

References

2 Kabashima K, Sakabe J, Yamada Y, Tokura Y. ‘Nagashima-type’ keratosis as a novel entity in the palmoplantar keratoderma category. Arch Dermatol 2008; 144: 375-9.

3 Isoda H, Kabashima K, Tokura Y. ‘Nagashima-type’ keratosis palmoplantaris in two siblings. J Eur Acad Dermatol Venereol 2009; 23: 737-8.

4 Lucker GP, Van de Kerkhof PC, Steijlen PM. The hereditary palmoplantar keratoses: an updated review and classification. Br J Dermatol 1994; 131: 1-14.

5 Ookusa Y, Nagashima M. Meleda-type of palmoplantar keratosis which showed autosomal dominant inheritance. Clinical Dermatology 1991; 45: 197-201; (in Japanese).