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Infantile systemic hyalinosis (ISH) is a very rare infantile stiff-skin syndrome characterized by extensive deposits of hyaline material in various organs, especially the skin and gingiva. Recent studies identified pathogenic mutations in the capillary morphogenesis gene 2 (CMG2) in both ISH and juvenile hyaline fibromatosis (JHF). Capillary morphogenesis protein-2 is an integrin-like cell surface receptor for laminins and type IV collagen, and may play a key role in cell-matrix or cell-cell interactions. We report a case of ISH in a 13-month-old Taiwanese girl who manifested progressive joint contractures, recurrent chest infections, chronic diarrhoea with severe hypoalbuminemia and ascites, gum hypertrophy, and violaceous papules and nodules over the occipital area, neck, lumbosacral and anogenital areas since birth. Skin biopsy revealed a thickened and hyalinized papillary dermis. Electron microscopy showed abundant extracellular fibrillogranular material and active fibroblasts with conspicuous Golgi complex filled with fibrillar material. Mutation analysis identified a homozygous 1073-1074insC mutation of CMG2 which had been reported in four other families and may represent a mutation hot spot.

Background and Purpose: Sarcoidosis is a multisystem disorder characterized by noncaseating, naked, epithelioid granulomas, and commonly involving the hilar lymph nodes, lungs, skin, and eyes. Once thought to be rare in Chinese, it is being encountered with increasing frequency in Taiwan. In this study, we examined the clinicopathologic findings of sarcoidosis in Chinese patients in Taiwan and investigated the role of Mycobacterium tuberculosis in the disease., Methods: The clinicopathologic features of all patients treated for sarcoidosis at a tertiary care hospital in Taiwan during a 10-year period were retrospectively examined. Nested polymerase chain reaction (PCR), using the IS6110 sequence as the amplification target, was used to detect M. tuberculosis complex DNA in formalin-fixed, paraffin-embedded skin specimens., Results: Sarcoidosis was diagnosed in a total of 12 patients (7 men, 5 women; mean age, 53 yr) during the study period. All patients presented with skin lesions varying from erythematous papules or nodules mainly located on the face (8 patients), to widespread papules, large plaques, and tumors on the extremities, trunk, or scalp (4 patients). Seven of the 12 patients had extracutaneous involvement. One developed cutaneous T cell lymphoma after 14 years of severe disease. Histopathologic examination of skin lesions revealed sarcoid or mixed sarcoid/tuberculoid granulomatous infiltration without evidence of mycobacterial, deep fungal infection, or foreign body material. Nested PCR failed to detect M. tuberculosis complex DNA in skin specimens., Conclusions: Our data suggest that sarcoidosis manifests with a wide range of cutaneous lesions in Taiwanese patients and that extracutaneous involvement is not rare. Dermatologists and general practitioners should be made aware that sarcoidosis may first manifest with skin lesions, so that the correct diagnosis can be made promptly. M. tuberculosis did not appear to be associated with sarcoidosis in this study group.

Widespread cutaneous necrosis as the catastrophic manifestation in antiphospholipid syndrome (APLS) is rather uncommon. Even in the few documented cases, the extensive skin necrosis lesions have been stabilized and regressed with eventual healing utilizing pulse steroid therapy alone or in conjunction with further treatment with plasmapheresis. We describe one case of APLS associated with lupus-like disease. The young female suffered from widespread cutaneous necrosis of the lower legs and gangrene change in the digital end of hands and feet. This condition necessitated amputation of major lower extremities and digital amputation of both hands.

Summary Prototheca , a genus of achlorophyllic algae, is a rare cause of opportunistic infection in humans. About 80 human cases, mostly cutaneous infection caused by P. wickerhamii , have been reported world-wide. We describe the clinicopathological findings and treatments of five cases diagnosed in our department during the period 1991–97. The patients, including four elderly farmers, presented with pyoderma-like lesions or infiltrating papules and plaques on the extensor side of the extremities or face. All patients were immunocompromised, mostly due to systemic or topical steroids. The diagnosis was made in each case by finding typical endospores with morula-like structures in skin biopsy specimens. P. wickerhamii was isolated in four cases in which pretreatment culture of skin tissue was done. Except for one patient who died of asthma, the infection was cured after 2–7 weeks of amphotericin B, ketoconazole, itraconazole or fluconazole. Our cases illustrate that cutaneous protothecosis commonly manifested non-tender, pyoderma-like or infiltrating lesions and should be considered in the differential diagnosis of deep fungal or mycobacterial infection. This rare infection seemed more frequent in our region, possibly due in part to common steroid abuse among old people in Taiwan and there was a large population of elderly farmers in our area. [ABSTRACT FROM AUTHOR]

The article discusses the case of a 61-year-old man with epidermolysis bullosa simplex-Weber Cockayne (EBS-WC) with a novel mutation in keratin 5 (KRT5) at position 324. It notes that EBS-WC is the most common type of EBS which is characterized by localized formation of blisters and is usually confined to the acral/friction area. It also cites the identification of globules of amyloid deposition in the patient's papillary dermis.

The article presents a study on a missense mutation of a gap junction protein beta 2 (GJB2) gene in a Taiwanese family with knuckle pads, sensorineural hearing loss (SNHL), and palmoplantar keratoderma (PPK). It says that a genetic study on the family was performed, in which peripheral blood samples were collected and genomic DNA were extracted. Furthermore, it mentions that a mutation analysis upheld the participation of the missense mutation in the syndromic form of hearing loss.

A letter to the editor is presented about the premenstrual exacerbation in calcium ATPase disorders of the skin.