Yuki Tomita

Involvement of the tongue by lymphomatoid papulosis

We report on a case of lymphomatoid papulosis (LyP) with involvement of the tongue. The patient was a 34-year-old Japanese man. Three reddish, centrally depressed, slightly elevated nodules were evident on the dorsal tongue, along with lesions elsewhere on the skin. One of them was biopsied and exhibited a superficial and deep, perivascular and interstitial mixed cellular infiltrate including atypical lymphoid cells, lymphocytes, neutrophils, and histiocytes. The patient also showed rhythmical recurrence of reddish papules and ulcerated nodules on the trunk, extremities, and anogenital area. Histologically, these papules showed a dense, wedge-shaped mixed cellular infiltrate in the dermis, which included medium and large atypical lymphoid cells, lymphocytes, neutrophils, and histiocytes. Immunoperoxidase staining for CD30 was positive in the cell membrane and cytoplasm of the atypical cells. We could not find other reports of LyP involving the tongue. Systemic treatment with interferon (INF)-alpha2a was dramatically effective in inhibiting recurrence of the eruption.

Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa

AbstractDystrophic EB (DEB) is clinically characterized by mucocutaneous blistering in response to minor trauma, followed by scarring and nail dystrophy, and is caused by mutations in the COL7A1 gene encoding type VII collagen. DEB is inherited in either an autosomal dominant (DDEB) or recessive (RDEB) fashion. DDEB basically results from a glycine substitution mutation within the collagenous domain on one COL7A1 allele, while a combination of mutations such as premature stop codon, missense, and splice-site mutations on both alleles causes RDEB. In this study, mutation analysis was performed in 20 distinct Japanese DEB families (16 RDEB and four DDEB). The result demonstrated 30 pathogenic COL7A1 mutations with 16 novel mutations, which included four missense, five nonsense, one deletion, two insertion, one indel, and three splice-site mutations. We confirmed that Japanese COL7A1 mutations were basically family specific, although three mutations, 5818delC, 6573+1G>C, and E2857X, were recurrent based on previous reports. Furthermore, the Q2827X mutation found in two unrelated families would be regarded as a candidate recurrent Japanese COL7A1 mutation. The study furthers our understanding of both the clinical and allelic heterogeneity displayed in Japanese DEB patients.

Stratum corneum hydration and flexibility are useful parameters to indicate clinical severity of congenital ichthyosis.

Abstract:  To determine any correlation between the stratum corneum barrier function and the phenotypic severity of congenital ichthyosis, we studied stratum corneum hydration, flexibility, thickness and transepidermal water loss (TEWL) in patients with congenital ichthyosis. Seven patients with congenital ichthyosis aged 2–46 years and age‐matched controls were included in the present study. We divided seven patients into two groups; patients with non‐bullous type (non‐bullous congenital ichthyosiform erythroderma patients) and patients with the bullous type of congenital ichthyosis (bullous congenital ichthyosiform erythroderma and ichthyosis bullosa of Siemens). Stratum corneum hydration, thickness and flexibility were measured using a Corneometer ASA‐M2. The stratum corneum thickness was also examined using a skin biopsy technique. TEWL was measured using Evaporimeter AS‐TW1. The clinical severity of ichthyosis phenotype was evaluated using a visual analogue scale (VAS). Stratum corneum hydration and flexibility were significantly reduced in both congenital ichthyosis patient groups. Stratum corneum thickness was significantly increased in both groups. In the patient group with non‐bullous congenital ichthyosis, significant negative correlations were confirmed between the VAS score and stratum corneum hydration and between the VAS score and flexibility. A significant, positive correlation was also observed between the VAS score and stratum corneum thickness. There was a positive correlation between the VAS score and TEWL on both the extensor and flexor sides of the forearm and back. We conclude that stratum corneum hydration, flexibility and thickness measured by the corneometer, and TEWL on the arm may be a useful indicator of the severity of ichthyosis phenotype. 


Leukaemic dissemination of Merkel cell carcinoma in a patient with systemic lupus erythematosus

We describe an unusual bone‐marrow metastasis of Merkel cell carcinoma (MCC) arising in the right cheek of a 73‐year‐old woman with systemic lupus erythematosus (SLE) and Sjögren’s syndrome, who had been treated with oral prednisolone and methotrexate for 10 years. Seven months after wide local excision followed by local irradiation, the patient presented with thrombocytopaenia. Her bone marrow had been completely replaced by metastatic MCC cells, and metastatic cytokeratin 20‐positive cells were also identified in the peripheral blood. To our knowledge, in the English literature, only six cases have been described previously of MCC bone‐marrow involvement. Of these six cases, four were immunosuppressed, similar to our case. The high incidence of MCC in immunosuppressed patients such as those with SLE has been discussed previously. We consider that immunosuppression might be associated with bone‐marrow metastasis, which is a rare form of MCC.

Simultaneous occurrence of three squamous cell carcinomas in a recessive dystrophic epidermolysis bullosa patient.

Sir, Squamous cell carcinoma (SCC) is a life-threatening and frequent complication in recessive dystrophic epidermolysis bullosa (RDEB) (1). SCC in RDEB usually develops between the fourth and fifth decades and predominantly on the extremities (2). We have identified three independent SCCs occurring on the extremities of an RDEB patient who had failed to undergo regular dermatological consultations.

Extramammary Paget's Disease with Distant Skin Metastasis

We report a 68‐year‐old Japanese man with invasive extramammary Pagets disease (EPD) which started in the left inguinal area and enlarged to include the scrotal skin, penis, and pubic area, resulting in lymph edema of the entire left leg. Histopathological examination of one nodule revealed an intraepidermal and intradermal arrangement of solid tumor cells with characteristic pale cytoplasm. The tumor was found to have disseminated to regional and systemic lymph nodes, lungs, bones, and the left adrenal gland. In addition, the patient had a metastatic cutaneous nodule on the scalp. Histology of the skin metastasis showed that the proliferation of Paget cells was confined to the dermis. This type of metastatic spread of EPD is very rare; only two other apparent cases in Japan have been reported.

Acquired perforating dermatosis appearing as elastosis perforans serpiginosa and perforating folliculitis

associated with inflammatory lesions. In these cases the lesions were located on the trunk, where the acne lesions were found. Other retinoids such as etretinate and topical retinoids, have also been associated with PG-like lesions. In addition to retinoids, PG-like lesions have been reported with indinavir treatment, an inhibitor of a human immunodeficiency virus (HIV)-1 protease, in up to 5.9% of patients. In these cases the lesions are distributed in the lateral nail folds, most commonly in the toes. It is believed that in this specific location, the disorder is trauma-related. Some homologies between the amino-acid sequences of retinoid acid-binding protein and the catalytic site of HIV-1 protease may explain the cutaneous side-effects of these two drugs. However, the pathogenic mechanism remains unknown. The only previous report of PG-like lesions related to capecitabine treatment was described by Piguet et al. The patient received capecitabine for 4 months and developed lesions in eight of his toes. The lesions resolved 1 month after discontinuation of capecitabine. Although there are some reports describing onycholysis in relation to capecitabine, no further reports of PG-like lesions have been described. Whether there are some similarities between capecitabine and retinoids or indinavir is not known. Dermatologists should be aware of the common cutaneous side-effects of capecitabine, including PG-like lesions.

Zeis Gland Carcinoma

Sebaceous carcinoma of the Zeis gland of the cilia is a rare malignant tumor. A 90‐year‐old Japanese man with a Zeis gland carcinoma on the left upper eyelid is reported. The tumor was a 12 times 3‐mm, reddish, partially yellow, papillomatous nodule accompanied by loss of several lashes. Histologically, two types of tumor cells, a dark basaloid cell and a larger pale cell, showed lobular and comedo‐acinar growth patterns. The carcinoma did not recur during the 8 months following surgery; however, the patient died of gastric carcinoma.

Granulocyte colony-stimulating factor (G-CSF) induced disseminated erythema with CD68 positive histiocytes

Sir, Granulocyte colony-stimulating factor (G-CSF) is used in the haematological treatment of neutropenia following cytotoxic chemotherapy and haematological disorders; it encourages proliferation and diŒerentiation of granulocytes. G-CSF therapy is occasionally known to be associated with skin rash, including neutrophilic dermatosis (1), widespread folliculitis (2) and cutaneous vasculitis (3), associated with neutrophil in® ltration in the skin. We describe a patient with a cutaneous reaction who had received G-CSF treatment for myelodysplastic syndrome. In our case, numerous CD68-positive mononuclear cells were seen in® ltrating the lesional skin.

Spontaneous Remission of Solitary-Type Infantile Myofibromatosis

Infantile myofibromatosis is a rare fibrous tumor of infancy. The cutaneous solitary type has typically an excellent prognosis. However, histologically, it is important to rule out leiomyosarcoma, which has a poor prognosis. The low frequency of mitosis was definitive for a diagnosis of infantile myofibromatosis. We present a cutaneous solitary-type case of infantile myofibromatosis. Following incisional biopsy, the tumor remitted spontaneously.