Genetic Ichthyosis and Trichophyton rubrum Infection in Infants: Genetische Ichthyosen und Trichophyton-rubrum-Infektionen bei kleinen Kindern

Summary: Extensive and chronic tinea glabrosa in one infant and a chronic tinea manuum and tinea unguium in another due to Trichophyton rubrum infection have been described. X-Linked ichthyosis vulgaris in the former and ichthyosis vulgaris (dominant) in the latter case were the associated conditions. The slow epidermal turnover and slow nail growth are the probable predisposing factors in these infants. It is emphasised that genetic ichthyotic disorders are more prone for T. rubrum infection. Zusammenfassung: Beschreibung einer ausgedehnten chronischen Tinea corporis bei einem Säugling sowie einer Tinea manuum mit Onychomykose bei einem weiteren Kind. Bei dem ersten Kind lag eine X-chromosomal gebundene Ichthyosis und bei dem zweiten eine Ichthyosis vulgaris vor. Der langsame epidermale turnover und das langsame Nagelwachstum werden hier als prädisponierende Faktoren angesehen. Es wird daraufhingewiesen, daß Patienten mit genetisch bedingten Ichthyosen anfällier für T. rubrum-Infektion sind.     

Ketoconazole in the Treatment of Combined Infection with Dermatophytosis and Candidosis

Summary: A boy of 5 years with dominant ichthyosis vulgaris with no immune deficiencies and who had extensive dermatophytosis caused by Trichophyton mentagrophytes and candidosis of oral mucosa, nails and paronychia was successfully treated with oral ketoconazole.
Zusammenfassung: Ein 5jähriger Junge, bei dem auf dem Boden einer dominanten Ichthyosis vulgaris, jedoch ohne Immundefekte, eine ausgedehnte Dermatophytose durch Trichophyton mentagrophytes und eine Candidose der Mundschleimhaut sowie der Nägel entstanden war, wurde erfolgreich mit oraler Ketoconazoltherapie behandelt.     

A patient with congenital ichthyosis hystrix (disseminated congenital naevus) and acute lymphoblastic leukaemia

Congenital ichthyosis is an uncommon spectrum of hereditary and sporadic hyperkeratotic epidermolytic disorders that may occur in isolation or in association with other clinical syndromes. The pattern of distribution of the hyperkeratotic lesions and family history form the basis of diagnosis. Ichthyosis may be a marker for immune deficiency and cancer prone conditions. We report a 16-year old Chinese patient with a diagnosis of ichthyosis hystrix hystrix (disseminated congenital naevus) since birth who presented with T cell acute lymphoblastic leukaemia with tetraploid clones. There are four reports of acute leukaemia complicating ichthyosis, all involving paediatric acute lymphoblastic leukaemia. The possible mechanisms involved are discussed.     

CD30-positive cutaneous anaplastic large cell lymphoma with ichthyosis acquisita

Anaplastic large cell lymphoma (ALCL) is a high-grade non-Hodgkin's lymphoma recognized by the expression of the CD30 marker and by its morphology. We report an unusual case of ALCL in a 42-year-old woman. For ten years the patient only had pruritic erythematous skin lesions, then a plaque with nodules and ulcers on the right thigh and leg developed, followed by ichthyosis acquisita. The development of ALCL in women and the association of ichthyosis acquisita with this type of lymphoma are uncommon.     

Acquired ichthyosis as a paraneoplastic syndrome in Hodgkin’s disease

An 80-year-old man was admitted to hospital with low-grade fever, weight loss, asthenia and anorexia. Physical examination revealed generalised ichthyosis with palmoplantar hyperkeratosis. CT scan showed retroperitoneal and inguinal lymph node enlargement. An inguinal lymph node biopsy revealed Hodgkin’s disease (nodular-sclerosing subtype). The patient received chemotherapy, showing a clear improvement of both skin lesions and lymph nodes.     

Case report. Pityriasis versicolor mimicking Pityriasis rotunda

Pityriasis versicolor is a common dermatomycosis, occurring throughout the world, characterized by irregular, slightly scaly patches, varying in color from red/light brown to white. Pityriasis rotunda, on the other hand, is an uncommon disease, reported in specific ethnic groups, and characterized by perfectly round or oval patches of varying color, with a scaly surface. The histologic pattern is that of ichthyosis vulgaris. We report here the case of a male patient, aged 31, from Sardinia (Italy), affected by Pityriasis versicolor mimicking Pityriasis rotunda. Mycological examination allowed us to formulate the correct diagnosis, and ensuing treatment with antifungal drugs was entirely successful. The authors, while pointing out the rarity of this case, stress the possibility that Pityriasis versicolor mimics Pityriasis rotunda and vice-versa, especially in those countries in which the two diseases are endemic. More widespread recourse to microscopic examination can help avoid the risk of mistaken diagnosis and consequent incorrect treatment.     

Squamous cell carcinoma in congenital ichthyosis with deafness and keratitis. A case report and review of the literature

The first case of invasive squamous cell carcinoma (SCC) arising in the skin of a patient afflicted with keratitis, ichthyosis, and deafness (KID) syndrome is reported. A 35-year-old man, diagnosed as having KID syndrome in early childhood, developed bilateral fungating lesions on his feet. The entire left foot became involved with a multinodular fungating mass which proved to harbor a SCC, necessitating a left below-knee amputation. Although rare, KID syndrome can be associated with SCC of the skin.     

Testis cancer. Ichthyosis constitutes a significant risk factor

Testis cancer and ichthyosis are both relatively rare diseases. Hence the finding of six individuals with both these conditions in a small population with testicular cancer is highly conspicuous and indicates some kind of connection among such persons. Despite the identical clinical appearances of their ichthyoses, three of the ichthyotic subjects had no measurable activity of the enzyme, steroid sulfatase (STS) in leucocytes, a distinct characteristic of recessive X-linked ichthyosis (RXLI). However, the remaining three subjects had normal STS activity, a strong indicator of autosomal dominant ichthyosis (ADI). The STS activity in patients with testicular cancer who do not have ichthyosis (N = 30) was also within the normal range. The patients with testicular cancer with no skin disease had elevated serum levels of 4-androstenedione (4-AD), follicle stimulating hormone (FSH), and luteinizing hormone (LH) but had reduced levels of estrone and estrone sulfate. The other serum parameters measured did not significantly differ from normal levels. In essence, the hormone levels obtained for the patients with ichthyotic testicular cancer followed the same pattern, although their dehydroepiandrosterone sulfate (DHEAS) and estrone sulfate levels tended to be slightly higher than normal. However, no conspicuous aberrations in any of the parameters examined were observed, and why men with ichthyosis are at high risk for testicular cancer remains an unresolved issue.     

Cutaneous manifestations of breast cancer

Breast cancer may present with cutaneous symptoms. The skin manifestations of breast cancer are varied. Some of the more common clinical presentations of metastatic cutaneous lesions from breast cancer will be described. Paraneoplastic cutaneous dermatoses have been reported as markers of breast malignancy and include erythema gyratum repens, acquired ichthyosis, dermatomyositis, multicentric reticulohistiocytosis, and hypertrichosis lanuginosa acquisita. Mammary Paget’s disease, often associated with an underlying breast cancer, and Cowden syndrome, which has an increased risk of breast malignancy, each have specific dermatologic findings. Recognition of these distinct cutaneous signs is important in the investigation of either newly diagnosed or recurrent breast cancer.     

Determining groups at risk of cancer in skin diseases

The frequency of subsequent tumor development in patients suffering from acquired ichthyosis and Darier's erythema as well as cases of concurrent dermatosis and malignant diseases was studied. The clinical course of said skin diseases was followed versus the effectiveness of tumor treatment. Acquired ichthyosis was found to be associated predominantly with neoplasms while the incidence of Darier's erythema was not. As a result, cases of acquired ichthyosis should be considered at high risk for cancer for life while patients with Darier's erythema aged more than 40 years should not be necessarily tested for tumors unless they have suffered dermatosis for at least three years.     

Radiotherapy-induced pemphigus: a case report]

A 61-year-old male patient suffering from squamous cell carcinoma of the lower lip developed pemphigus vulgaris two months after exposure to radiotherapy. Skin lesions were initially localised to the face and neck and later extended over other skin areas. The eruption are improved with glucosteroid therapy, which were stopped after six months. Pemphigus induced by radiotherapy is rare, latency before the onset of the vesiculobullous eruption is variable. Clinical, histological and immunological characteristics are similar to those of other types of pemphigus.     

Dermabrasion-Loo-punch-excision technique for the treatment of acne-induced osteoma cutis

Three patients with chronic osteoma cutis secondary to acne vulgaris were treated with the dermabrasion-Loo-punch-excision technique. Under regional nerve block with lidocaine-bipuvacaine (50:50) a uniform dermabrasion was performed across the entire face, including the hairline and 1 cm below the jawline. This exposed the foci of osteoma cutis. Then the appropriate sized Loo punch (usually the 2.0- or the 2.5-mm punch) was used to excise the bluish-gray miliary lesions. The majority of the foci were removed in one operation. Following excision, the lesions were closed with 7-0 prolene suture. To prevent crust formation postoperatively, Aloe-vera-soaked polyethylene oxide gel dressings (Vigilon) were changed twice daily following an ice water compress. Sutures were removed rapidly in 5 to 7 days to prevent the appearance of suture lines. Although one patient required an additional procedure, the cosmetic results were excellent. Only a few small residual blue "dot" lesions remained in these three cases.     

Squamous cell carcinoma of the oral cavity--chronic oral ulcerative disease as a possible etiologic factor.

This report documents the association of carcinoma of the oral cavity with chronic oral ulcerative disease in two patients. This association has not previously been documented in the surgical literature. Both patients in this report had chronic oral ulcerative disease preceding their cancers; however, the common etiologic factors for oral cancer were not detected in either case. Oral lichen planus and pemphigus vulgaris should be considered as potentially premalignant lesions and should be treated accordingly.     

Early invasive vulvar squamous cell carcinoma arising in a woman with vulvar pemphigus vulgaris and systemic lupus erythematosus

Background  

Pemphigus vulgaris (PV) is an autoimmune blistering disease of the skin and mucous membranes. Genital involvement occurs when most other common sites are concurrently affected or are in remission. Systemic lupus erythematosus (SLE) is an autoimmune disease that may affect many parts of the body and the skin with occasional bullous lesions. Pemphigus vulgaris and SLE may be associated, albeit rarely. Here, we report the first case of a woman affected with SLE presenting with early invasive squamous cell carcinoma (SCC) arising from Pemphigus Vulgaris of the vulva.     

Paraneoplastic pemphigus: a review

Paraneoplastic pemphigus (PNP) is a relatively recently described autoimmune disorder, distinguished from pemphigus vulgaris or foliaceus by specific clinical, histologic and immunologic criteria. In the present review, 18 cases of paraneoplastic pemphigus reported so far are discussed. The polymorphism, extent and persistence of skin and mucosal lesions are discussed while the problems of differential diagnosis and the significance of the associated neoplasms are also stressed. The underlying malignancy in the majority of the cases has been of lymphoid origin and has preceded the clinical presentation of pemphigus. All patients have had oral and cutaneous lesions. In 66.6% of the patients there was a poor response to therapy.     

Nucleotide excision repair and human syndromes

DNA damage is implicated in cancer and aging, and several DNA repair mechanisms exist that safeguard the genome from these deleterious consequences. Nucleotide excision repair (NER) removes a wide diversity of lesions, the main of which include UV-induced lesions, bulky chemical adducts and some forms of oxidative damage. The NER process involves the action of at least 30 proteins in a 'cut-and-paste'-like mechanism. The consequences of a defect in one of the NER proteins are apparent from three rare recessive syndromes: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and the photosensitive form of the brittle hair disorder trichothiodystrophy (TTD). Sun-sensitive skin is associated with skin cancer predisposition in the case of XP, but remarkably not in CS and TTD. Moreover, the spectrum of clinical symptoms differs considerably between the three syndromes. CS and TTD patients exhibit a spectrum of neurodevelopmental abnormalities and, in addition, TTD is associated with ichthyosis and brittle hair. These typical CS and TTD abnormalities are difficult to comprehend as a consequence of defective NER. This review briefly describes the biochemistry of the NER process, summarizes the clinical features of the NER disorders and speculates on the molecular basis underlying these pleitropic syndromes.     

夏枯草对Eca109细胞的影响

目的研究夏枯草对人食管癌Eca109细胞的促凋亡作用。方法通过绘制生长曲线测定夏枯草对Eca109细胞生长增殖的影响,流式细胞术研究夏枯草诱导Eca109细胞凋亡的情况。结果100mg／mL浓度的夏枯草组细胞生长明显被抑制,Eca109细胞在100mg／mL夏枯草作用24h后,流式细胞仪测定见明显亚二倍体凋亡峰。结论100mg／mL的夏枯草可明显抑制Eca109细胞的生长并诱导其凋亡。     

Cutaneous phaeohyphomycosis due to Alternaria tenuissima

Summary. A 50-year-old gardener with a 3-year history of pemphigus vulgaris and steroid-induced diabetes complained of various papulonodular lesions on the left elbow. The lesions had appeared 11 months previously. Skin biopsy showed chronic granulomatous inflammation of the dermis which contained septate hyphae and large spores mainly free. Fragments of the biopsy specimen, cultured on Sabouraud glucose agar without cycloheximide, for 4 days, produced soft white colonies which later turned blackish brown, especially on the underside. On the basis of the microscopic characters of the conidiophores and conidia, Alternaria tanuissima was identified. This phaeohyphomycete has only been isolated previously in two other cases in Italy.
Zusammenfassung. Ein 50-jähriger Arbeiter, seit 3 Jahren an Pemphigus vulgaris und steroidinduziertem Diabetes erkrankt, wies seit ungefähr einem Jahr noduläre und papuläre Lesionen am linken Ellbogen auf. In einer Probeexzision waren im Korium neben chronisch granulomatösem Entzündungsgewebe septierte Hyphen und größtenteils freie Sporen größerer Dimension zu sehen. Auf Sabouraud-Glucose-Agar ohne Zusatz von Cycloeximid wuchsen aus Biopsiematerial nach 4 Tagen anfangs weiße, flauschige Kolonien, die später eine braun-schwarze Pigmentierung, vor allem an der Unterseite, aufwiesen. Anhand der mikroskopischen Eigenschaften der Konidiophoren und der Konidien wurde Alternaria tenuissima identifiziert, die bisher in Italien nur in 2 Fällen isoliert wurde.     

A case of follicular lymphoma complicated with lethal pemphigus

Paraneoplastic pemphigus (PNP) is a rare autoimmune bullous disease associated with neoplasm, which is clinically characterized by mucocutaneous lesions resembling pemphigus vulgaris or erythema multiforme. A case presented with PNP refractory to chemotherapy including rituximab, predonisolone and cyclophosphamide (RCHOP regimen). A 36-year-old man, who had been diagnosed as extended follicular lymphoma, presented with a polymorphous skin eruption of the trunk, sclera conjunctivitis, and severe mucosal erosions of the lips and oral cavity. He was diagnosed as pemphigus pathologically by a biopsy of the oral mucosa. However, 3 courses of rituximab and CHOP therapy, which exert a partial response with lymphoma lesions, did not prove effective for oral stomatitis due to pemphigus. He received corticosteroid therapy (prednisolone 40 mg/day) and went into a state of temporally remission regarding pemphigus. However, the mucosal lesions were again exacerbated despite control of the lymphoma status after chemotherapy. Oral stomatitis extended to the upper respiratory system through the larynx and resulted in bronchiolitis obliterance clinically presented likely as severe chronic obstructive pulmonary disease (COPD). Because it is known that PNP refractory to long-term steroid and cytoreductive therapy has a progressive character and poor prognosis, supportive care would be warranted for these patients.