Akiko Kishi

Loricrin gene mutation in a Japanese patient of Vohwinkel's syndrome

Vohwinkels syndrome (VS) is a rare, dominantly inherited keratoderma with pseudoainhum. Recently, a mutation in loricrin gene has been reported in two VS families of British extraction. In the present study, we examined the loricrin gene mutation in a Japanese VS patient. The patient was a 20-year-old woman. She had palmoplantar keratoderma, constricting bands encircling all the fingers, fifth toes, wrist, and neck. She also had generalized mild ichthyosis and suffered from acoustic impairment. Her parents and a brother showed no skin abnormality. Histopathology of the patient revealed hyperkeratosis with parakeratosis, together with hypergranulosis. The clinical and histopathological findings were consistent with an ichthyotic (or Camisa) variant of VS. The sequence analysis of the loricrin gene revealed that the patient had a heterozygous mutation identical to that described in previous reports, i.e. a G insertion producing a frameshift at codon 231 with an abnormal C-terminus. These results clearly demonstrate that a common loricrin gene mutation underlies VS in different ethnic groups.

Effects of non‐amputative wide local excision on the local control and prognosis of in situ and invasive subungual melanoma

Subungual melanomas (SUM) are rare, and amputation is often required. Non‐amputative wide local excision (WLE) of the nail unit with the periosteum of the distal phalanx, followed by skin graft, has been accepted for in situ or SUM of 0.5 mm or less thickness. However, previous reports have included a limited number of cases, and not all more than 0.5‐mm thick SUM exhibit invasion or attachment to the distal phalanx. The aim of the present study was to investigate the local recurrence and prognosis for in situ, minimally invasive and invasive SUM that were treated using WLE. We retrospectively reviewed 50 patients with in situ (n = 48) or minimally invasive SUM (n = 2) (in situ or minimally invasive group) and 12 patients with more than 0.5‐mm thick invasive SUM (invasive group) who were treated using WLE. All patients survived the follow‐up period (24–207 months), although four patients with in situ SUM experienced local recurrence at the lateral margin and re‐excision was required. In the invasive group, no patients experienced local recurrence, although one patient (8.3%) developed nodal metastasis at 86 months and regional lymph node dissection was required. WLE may provide acceptable local control for in situ and intermediate thickness SUM, without compromising the vital prognosis. However, a larger randomized prospective study with long‐term follow up is required to evaluate adequately the risks associated with a non‐amputative WLE for in situ and invasive SUM.

Vesicles as initial skin manifestation of disseminated fusariosis after non-myeloablative stem cell transplantation.

A 52-year-old man underwent non-myeloablative stem cell transplantation from his HLA identical sister for the treatment of mantle cell lymphoma. On day 0, he developed a high-grade fever, watery diarrhea and vesicles scattered on the skin. Well experienced dermatologists diagnosed these lesions as VZV reactivation. High dose antiviral agents were ineffective, and Fusarium solani was cultured from his stool and sputum. Systemic fusariosis progressed rapidly and he died of multiorgan failure on day 18. It is sometimes difficult to differentiate between viral and fungal blisters based on macroscopic examinations. We recommend early histopathological examination of the skin, when HSCT recipients develop vesicles.

Prolonged growth of infantile hemangioma after pulsed dye laser and oral propranolol treatment

Infantile hemangiomas are the most common tumor of childhood and undergo rapid growth during early infancy followed by gradual involution. After involution, residual lesions sometimes remain. Oral propranolol usually induces earlier involution and redness reduction of infantile hemangiomas. However, the optimal treatment duration is unknown and infantile hemangiomas sometimes recur after cessation of treatment. We report three Japanese patients with recurrent infantile hemangiomas on their cheek. These patients were a 1‐month‐old female baby with a superficial infantile hemangioma, a 3‐month‐old female baby with a mixed infantile hemangioma and a 4‐month‐old male baby with a mixed infantile hemangioma. Two of them also received pulsed dye laser treatment. They did not reach complete or nearly complete resolution of infantile hemangiomas at week 25. These patients experienced regrowth of their infantile hemangioma after 20 months of age and took propranolol after the age of 24 months. There were no severe adverse effects. Propranolol may not only be therapeutic but also prophylactic. Patients with infantile hemangiomas who have taken oral propranolol should be followed up at least 6 months after cessation of treatment, especially infantile hemangiomas on the cheek, and those with partial response to propranolol may require close attention in prolonged growth.

A case of triple paget disease caused by emergence of Paget disease in both axillae on 19th year after operation of pudendum with Paget disease.

We present 79-year-old man in whom bilateral axillary Pagets disease developed 19 years after the operation of genital Pagets disease. In our experience of 161 extramammary Pagets disease, 8 cases are diagnosed as double or triple Pagets disease. In 5 cases, we found multiple lesions at their first visit. In 3 cases, axillary lesion revealed during follow up period. Long dormancy in this case suggests multicentric and independent occurrence of double or triple Pagets disease.