[show abstract][hide abstract] ABSTRACT: Spontaneous recovery of severe alopecia areata is rare and the condition is difficult to treat.
The aim of this study is to investigate and compare the effects and safety of steroid pulse therapy between oral and intravenous administrations between 1999 and 2010 at the Department of Dermatology, National Cheng Kung University Hospital.
Data were retrospectively retrieved. A satisfactory response was defined as more than 75% hair regrowth in the balding area.
A total of 85 patients with more than 50% hair loss were identified and treated, with an overall satisfactory response rate of 51.8%. The mean follow-up time was 37.6 months, with a relapse rate of 22.7%. Patients with alopecia areata (hereafter, AA) of recent onset within one year showed higher response rates (p<0.001) and lower relapse rates compared to patients with AA persisting for more than 1 year. Further, even in patients with alopecia totalis, alopecia universalis or ophiasis type, early treatment resulted in a satisfactory response rate of 47% among the treated patients. In general, oral therapy was as effective and well-tolerated as intravenous therapy.
The response rate is determined by disease severity and time of intervention, not by the administration form of steroid pulse therapy. Oral steroid pulse therapy can be considered as the first-line treatment for patients with severe AA of recent onset within one year.
Annals of Dermatology 11/2013; 25(4):471-4. · 0.61 Impact Factor
[show abstract][hide abstract] ABSTRACT: Opportunistic infection has been documented in systemic lupus erythematosus with special attention paid to Pneumocystis jirovecii because of the significant morbidity and high mortality.
The limited large-scale investigations covering P. jirovecii pneumonia (PCP) in systemic lupus erythematosus following biologics or immunosuppressants therapy prompted us to perform this study in southern Taiwan.
A retrospective study was completed in 858 hospitalized lupus patients from January 2000 to December 2011. The definite diagnosis of PCP was made by the laboratory detection of Pneumocystis organisms together with consistent clinical and radiological manifestations of PCP. Positive polymerase chain reaction results of sputum samples were not regarded as infection in this study, unless P. jirovecii was the sole pathogen found and pulmonary manifestations resolved following antibiotics for PCP treatment alone.
The laboratory identification of Pneumocystis organisms depended on lung biopsy in 2 cases and bronchoalveolar lavage in 3 patients. Five cases, 2 women and 3 men aged 30 to 50 years (41.8 ± 8.8 years), were identified with a 0.6% incidence. None received chemoprophylactics against P. jirovecii infection. All had lupus nephritis and lymphopenia with low CD4 T-cell counts. Prior usages of higher daily prednisolone dosages and concomitant biologics or immunosuppressants were observed in all patients. Pneumocystis jirovecii pneumonia contributed to a high mortality rate (60%).
We report the rare occurrence but high mortality of PCP infection in this study. A consensus guideline addressing prophylactic antibiotics against Pneumocystis organisms in highest-risk lupus patients on biologics or immunosuppressants could be helpful in guiding their management.
Journal of clinical rheumatology: practical reports on rheumatic & musculoskeletal diseases 07/2013; · 1.19 Impact Factor
[show abstract][hide abstract] ABSTRACT: Background/Objective
Dyschromatosis symmetrica hereditaria (DSH) is a rare pigmentary genodermatosis characterized by hyper- and hypopigmented macules on the face and dorsal aspects of the extremities. This study aimed to delineate the unique clinical, histological, and genetic features of DSH in a Taiwanese population.MethodsA retrospective review of clinical charts and archival photographs was performed for patients diagnosed with DSH in a medical center in Taiwan between 1992 and 2011.ResultsA total of 25 patients (mean age at diagnosis 20.3 years) were given the clinical diagnosis of DSH. The male:female ratio was 14:11. Positive family history was noted in 14 patients (56%). The pattern of inheritance was basically autosomal dominant. Twelve patients (48%) had typical hypo- and hyperpigmented macules distributed on the dorsal aspects of the extremities. Six patients (24%) had coexistence of other diseases, particularly seizure, mental retardation, and autism. Mutation analyses were done on 12 patients (48%), with three novel mutations previously identified. Skin biopsy specimens were obtained from seven patients (28%). Six of those had pathological findings consistent with the diagnosis of DSH.Conclusion
With this series, we hope to add to the DSH mutation database and contribute further to the understanding of DSH genotype/phenotype correlations.
[show abstract][hide abstract] ABSTRACT: Atypical fibroxanthoma (AFX)-like malignant melanoma is very rare. Here, we report a case of amelanotic AFX-like melanoma in a 72-year-old Taiwanese woman presenting with two separate, asymptomatic, enlarging erythematous nodules within a large hypopigmented patch on her left cheek. Histologically, both lesions showed cellular nodules in the reticular dermis separated from the overlying flattened epidermis by a zone of solar elastosis or fibrosis. The tumor consisted of sheets of atypical epithelioid cells arranged in a vague nesting pattern, as well as many atypical large or gigantic cells with one or more, large hyperchromatic, vesicular, or pleomorphic nuclei with prominent nucleoli, and moderate-to-abundant eosinophilic or foamy cytoplasm. Focal intraepidermal proliferation of atypical melanocytes with a pagetoid pattern was found only in the periphery of the main tumor. The tumor cells were moderately to strongly positive for S-100, Melan-A, and HMB-45. The pleomorphic giant cells were focally CD68-positive but CD163-negative. The patient underwent tumor excision followed by radiotherapy due to the narrow surgical margins. A sentinel lymph node biopsy revealed no metastasis of the melanoma. This case illustrates the importance of scrutinizing any subtle proliferation of atypical melanocytes in the epidermis in an AFX-like tumor in order to avoid misdiagnosis.
[show abstract][hide abstract] ABSTRACT: Pachyonychia congenita (PC) comprises a group of rare autosomal dominant genetic disorders that involve ectodermal dysplasia. It is characterized by hypertrophic nail dystrophy, focal palmoplantar keratoderma, follicular keratoses, and oral leukokeratosis. Historically, PC has been subdivided into two subtypes, PC-1 or PC-2, on the basis of clinical presentation. However, differential diagnosis based on clinical grounds, especially in young and/or not fully penetrant patients, can be difficult. In addition, clinical analysis of the large case series has shown that there is considerable phenotypic overlap between these two subtypes recently. Based on the advent of molecular genetics and the identification of the genes causing PC, more specific nomenclature has been adopted. Therefore, diagnosis at the molecular level is useful and important to confirm the clinical impression. In this report, we describe two typical cases of PC with mutation analysis revealed a small deletion (514_516delACC, Asn172del) and a point mutation (487 G > A, GAG → AAG, Glu163Lys) in the KRT6A gene.
[show abstract][hide abstract] ABSTRACT: Concurrent psoriasis vulgaris and Hailey-Hailey disease is very rare. The clinical and pathologic findings of widespread Hailey-Hailey disease in a 48-year-old woman with pre-existing generalized psoriasis vulgaris were described. In our patient, the vesicular eruption of Hailey-Hailey disease was obscured clinically by the psoriatic lesions. The diagnosis of both diseases was confirmed pathologically. The patient had a total of five skin biopsies performed over the neck, flank area, back, pubic area, and a finger. Acantholytic dyskeratosis, changes suggestive of Hailey-Hailey disease, were found in four specimens, psoriasis in two specimens, and both diseases in one specimen. The diagnosis of Hailey-Hailey disease was further confirmed by detecting a novel splice mutation (832G>A) in the ATP2C1 gene. Our case illustrated that diagnosis of disseminated Hailey-Hailey disease may easily be missed in a patient with a pre-existing generalized pruritic eruption, such as psoriasis. The appearance of eczematous vesicular eruption or eroded intertrigo-like lesions in a patient with pre-existing generalized eruption should raise a suspicion of Hailey-Hailey disease.
International journal of dermatology 08/2012; 51(8):947-51. · 1.18 Impact Factor
[show abstract][hide abstract] ABSTRACT: OBJECTIVE: Persistent pruritic eruptions (PPE) are common among our patients with adult-onset Still disease (AOSD). We aimed to characterize the clinicopathologic features of the AOSD-associated evanescent and persistent rashes. METHODS: We reviewed the clinicopathologic features of the skin lesions from all AOSD cases diagnosed in our hospital during 1988 to 2009. The diagnoses were based on Yamaguchi criteria for AOSD. RESULTS: Altogether, there were 36 patients (6 men and 30 women) with age of onset ranging from 17 to 67 years (average 35.7 years). Evanescent rash was recorded in 31 patients (86%) and PPEs in 28 (78%). PPEs usually appeared at the disease onset and manifested as widespread, pruritic, erythematous urticarial or violaceous to brownish flat-topped (lichenoid) papules and plaques over the trunk, neck, face, and extensor sides of the extremities. PPEs were classified clinically as urticarial papules (n = 21), lichenoid papules (n = 18), prominent linear and dermographism-like (n = 11), dermatomyositis-like (n = 7), prurigo pigmentosa-like (n = 4), and lichen amyloidosis-like (n = 2). The clinical activity score was 5.78 ± 1.11 (range 4 to 8) for the series and 6.57 ± 0.98 and 5.57 ± 1.07, respectively, for the groups with and without dermatomyositis-like PPE (P = 0.0314). Five patients died, 3 of them with dermatomyositis-like PPE. Histopathologically, the evanescent rash (8 specimens) showed a superficial perivascular infiltrate of lymphocytes and neutrophils, whereas the PPEs (32 specimens) revealed solitary or cluster necrotic keratinocytes in the superficial epidermis with infiltration of lymphocytes and neutrophils in the upper and mid dermis. CONCLUSIONS: PPEs were very common among our patients with AOSD. Recognition of the characteristic clinical and pathologic features of PPE can facilitate diagnosis of AOSD. Therefore, biopsy of atypical eruptions in AOSD patients is recommended because it is likely that the highly distinctive histopathologic features will allow these eruptions to be readily classified.
Seminars in arthritis and rheumatism 06/2012; · 4.72 Impact Factor
[show abstract][hide abstract] ABSTRACT: Type II hypozincemia of infancy is a rare, hereditary zinc deficiency occurring in infants while exclusively on breast feeding. It is caused by defective transfer of zinc into breast milk. Only a few dozen cases have been reported. A 6-month-old, full-term, breast-fed female infant presented with a 3-week history of erythematous to dusky red papules and annular plaques over the perioral and diaper area as well as the digits. The eruption was accompanied by poor appetite and irritable crying. Serum zinc was low (4.896 μmol/L, normal = 10.71−18.36 μmol/L) in the patient but was normal in the mother. Interestingly, the zinc level in the breast milk was very low (2.142 μmol/L; normal postpartum zinc = 18.36 μmol/L at 6 months). Histopathology of a skin biopsy specimen showed spongiotic psoriasiform dermatitis with pallor of superficial keratinocytes, consistent with deficiency disease. With oral zinc sulfate supplement, her skin lesions improved significantly within 4 days. Type II hypozincemia needs to be differentiated from the classical hereditary acrodermatitis enteropathica, which typically develops symptoms after weaning because of poor intestinal absorption of zinc in the affected infants. Mutations in zinc transporter genes have been detected in SLC39A4 (Zip4) and SLC30A2 (ZnT2), respectively, in classical acrodermatitis enteropathica and type II hypozincemia. No mutation was found in these two genes in the present pedigree. Therefore, the genetic defect in our patient might involve other zinc transporter genes.
[show abstract][hide abstract] ABSTRACT: A cross-sectional study was conducted to investigate the prevalence, types, and risk factors associated with anal HPV infection among HIV-infected men in outpatient clinics at an AIDS designated hospital in Taiwan. Anal swabs were collect and PCR (polymerase chain reaction) was used to analyze the types of anal HPV infection. HPV DNA was detected in 74.2% of the 198 participants, including high-risk types (40.4%), low-risk types (18.2%) and multiple-types (6%). The most common types were HPV 16 (13.1%), 6 (10.4%), 11 (7.1%) and 18 (6.1%). The significant risk factor for being infected with any type or a high-risk type of HPV was having sexual partners (>3) in the preceding 6 months. Low-risk type of anal HPV infection was associated with a history of anal lesions. Our findings support the need for regular follow-up of all HIV/HPV coinfected patients and their partners to allow early detection of anal intraepithelial neoplasia.
[show abstract][hide abstract] ABSTRACT: In the present paper we report on a Taiwanese case of X-linked recessive dyskeratosis congenita (DC), confirmed by detection of a 214 C→T mutation in the DKC1 gene, and provide a detailed description of mottled pigmentary changes of the skin, specifically numerous small, whitish macules dispersed against a background of diffuse, finely reticulated hyperpigmentation. The hypopigmented macules showed no discernible erythema upon rubbing or the local application of heat. The naevus anaemicus-like macules may be a relatively common but under-recognized feature in DC. More studies are required to determine the incidence and histopathology of these macules.
Australasian Journal of Dermatology 05/2011; 52(2):142-5. · 0.97 Impact Factor
[show abstract][hide abstract] ABSTRACT: Exfoliative dermatitis or erythroderma in infancy is rare. Clinicians need to be alert to the possible diagnosis of Omenn syndrome (OS), a rare form of combined immunodeficiency in infants presenting with recurrent infections, erythroderma, lymphadenopathy, hepatosplenomegaly, eosinophilia, and increased serum IgE levels. OS is fatal unless treated by hematopoietic stem cell transplantation. We described a 26-day-old boy who had presented with diffusely thick scales on the scalp and some pustules on his face and trunk since birth. The rash was initially treated as presumed seborrheic dermatitis. At the age of 42 days, he developed extensive exfoliative dermatitis, lymphadenopathy, hepatosplenomegaly, and failure to thrive as well as eosinophilia and increased serum IgE levels. The histopathology of the skin and lymph node were consistent with the diagnosis of OS. He had been prepared for allograft bone marrow transplantation twice at 5 months and 7 months of age, but the procedure was not performed because of catheter-related sepsis. The patient eventually died of sepsis secondary to perianal cellulitis at 20 months of age.
Dermatologica Sinica - DERMATOL SIN. 01/2011; 29(2):50-54.
[show abstract][hide abstract] ABSTRACT: Focal dermal hypoplasia (FDH), or Goltz syndrome, is a rare X-linked dominant ectodermal and mesodermal disease involving the skin, distal limbs, and eyes. About 95% of the cases appear de novo, and 90% are females. Recent studies reveal that FDH is caused by mutations in the PORCN gene. Female patients are either heterozygous or mosaic for PORCN mutations, whereas all male patients are mosaic. About 5% of the female patients analyzed have no detectable mutations or microdeletions of PORCN gene. We report a sporadic case of FDH in a 16-year-old girl presenting with atrophic or erythematous macules and patches distributed along the lines of Blaschko over the trunk and extremities with prominent soft yellowish fat herniation over the left axilla and left groin, and papillomas in the oral and genital areas. Multiple developmental anomalies of the digits and ear were also noted. Histopathology of the skin lesion revealed severe dermal hypoplasia. Mutation analysis of all coding regions and flanking intron boundaries of the genomic DNA revealed no detectable mutation of the PORCN gene. Our case manifested mucocutaneous and multiple developmental anomalies typical of FDH, but no mutation in the PORCN gene was detected by mutation analysis.
Dermatologica Sinica - DERMATOL SIN. 01/2011; 29(2):59-62.
[show abstract][hide abstract] ABSTRACT: Hypersensitivity reactions to aluminum are rare. Sensitization has been reported during the continuous application of aluminum-containing antiperspirants or after the injection of aluminum-adsorbed vaccines and allergen extracts containing aluminum. We report a rare case of a nonhealing ulcer at the site of an accidental molten aluminum burn that showed changes of eosinophilic cellulitis and panniculitis histologically. This process was followed by a generalized vesicular and pustular id reaction. The reactions resolved after 1 month of systemic corticosteroid therapy. Two months later, there was a relapse with bullae over the burn scar, accompanied by a pruritic oozing rash on the ears and face; the lesions were controlled again with systemic corticosteroid treatment. The clinicopathologic features suggest that the eosinophilic cellulitis with panniculitis and id reaction in the present case represents an unusual allergic reaction to aluminum. Aluminum allergy may be considered as a possible underlying process in the setting of eosinophilic cellulitis with panniculitis and id reaction.
[show abstract][hide abstract] ABSTRACT: Atrichia with papular lesions is a rare form of hair loss with an autosomal recessive mode of inheritance characterized by the absence of normal hair follicles and formation of intradermal cystic structures. Mutations in the hairless (HR) gene in both mice and human have been implicated in the development of this phenotype. HR codes for a putative transcription factor containing a single zinc-finger DNA binding domain, with restricted expression in the brain and the skin. Here, we report the first case of atrichia with papular lesions in a Taiwanese family with no detectable mutation in HR.
Dermatologica Sinica - DERMATOL SIN. 01/2010; 28(1):40-43.