Objective To investigate the clinical characteristics and genetic mutations in Kindler syndrome(KS)and provide a theoretical basis for the diagnosis and treatment of KS. Methods The clinical data of one case of KS from Peking Union Medical College Hospital and 185 cases reported in literature were collected. The gene mutation types,patient clinical data,and tumor characteristics were statistically analyzed. Results A total of 186 cases were enrolled,including 110 males and 76 females,with the mean age of(28±16)years. The data of gene mutation and specific clinical manifestations were available in 151 and 94 patients,respectively. The main clinical manifestations of KS included poikiloderma,occurrence of blister in childhood,and photosensitivity,and the secondary clinical manifestations included oral inflammation,palmoplantar keratoderma,webbing/pseudoainhum,dysphagia,urethral stricture and so on.Oral inflammation(r=0.234,P=0.023),palmoplantar keratoderma(r=0.325,P=0.001),webbing/pseudoainhum(r=0.247,P=0.016),dysphagia(r=0.333,P=0.001),urethral stricture(r=0.280,P=0.006)were significantly correlated with age,showing significantly higher incidence in the patients over 32 years old.Urethral stricture(χ²=11.292,P=0.001)and anal stenosis(χ²=4.014,P=0.045)were significantly correlated with sex,with higher incidence in males.Eighty different mutations were found in 151 patients,and the most common gene mutation was c.676C>T.Forty-one tumors occurred in 27 patients,among which squamous cell carcinoma accounted for 92.7%. The gene mutation site had no significant correlation with squamous cell carcinoma or patient country. Conclusions The c.676C>T in FERMT1 gene is the most common mutation in KS.The patients are prone to squamous cell carcinoma and mainly attacked at the exposure sites(hand and mouth).
Adolescent ; Adult ; Ainhum ; Blister ; Carcinoma, Squamous Cell ; Child ; Constriction, Pathologic ; Deglutition Disorders/complications* ; Epidermolysis Bullosa ; Female ; Humans ; Inflammation ; Keratoderma, Palmoplantar/complications* ; Male ; Membrane Proteins ; Mutation ; Neoplasm Proteins/genetics* ; Periodontal Diseases ; Photosensitivity Disorders ; Urethral Stricture/complications* ; Young Adult

Phytophotodermatitis is a condition caused by sequential exposure to photosensitizing substances present in plants followed by ultraviolet light. Several plants (e.g., limes, celery, fig, and wild parsnip) contain furocoumarin compounds (psoralens). It is important for dermatologists to be aware of phytophotodermatitis because it may be misdiagnosed as cellulitis, tinea, or allergic contact dermatitis. We present five patients with a sharply defined erythematous swollen patch with bullae on both feet. They described soaking their feet in a fig leaves decoction to treat their underlying dermatologic diseases. Within 24 hours, all patients had a burning sensation in their feet, and erythema and edema had developed on the feet dorsa with exception of the portion of the skin covered by the sandals. Histopathologic examinations revealed sub-epithelial blisters with intensive epidermal necrosis. Phytophotodermatitis was ultimately diagnosed and, after several days, the patients' skin lesions began to recover upon treatment with systemic and topical corticosteroids. Unfortunately, since there are no studies providing sufficient evidence on the benefits of fig leaves, they should be used with caution.
Adrenal Cortex Hormones ; Apium graveolens ; Blister ; Burns ; Cellulitis ; Citrus aurantiifolia ; Dermatitis, Allergic Contact ; Edema ; Erythema ; Ficus ; Foot ; Humans ; Necrosis ; Photosensitivity Disorders ; Sensation ; Skin ; Tinea ; Ultraviolet Rays

Phytophotodermatitis is a condition caused by sequential exposure to photosensitizing substances present in plants followed by ultraviolet light. Several plants (e.g., limes, celery, fig, and wild parsnip) contain furocoumarin compounds (psoralens). It is important for dermatologists to be aware of phytophotodermatitis because it may be misdiagnosed as cellulitis, tinea, or allergic contact dermatitis. We present five patients with a sharply defined erythematous swollen patch with bullae on both feet. They described soaking their feet in a fig leaves decoction to treat their underlying dermatologic diseases. Within 24 hours, all patients had a burning sensation in their feet, and erythema and edema had developed on the feet dorsa with exception of the portion of the skin covered by the sandals. Histopathologic examinations revealed sub-epithelial blisters with intensive epidermal necrosis. Phytophotodermatitis was ultimately diagnosed and, after several days, the patients' skin lesions began to recover upon treatment with systemic and topical corticosteroids. Unfortunately, since there are no studies providing sufficient evidence on the benefits of fig leaves, they should be used with caution.
Adrenal Cortex Hormones ; Apium graveolens ; Blister ; Burns ; Cellulitis ; Citrus aurantiifolia ; Dermatitis, Allergic Contact ; Edema ; Erythema ; Ficus ; Foot ; Humans ; Necrosis ; Photosensitivity Disorders ; Sensation ; Skin ; Tinea ; Ultraviolet Rays

Quantum dots (QDs) have received considerable attention due to their potential role in photosensitization during photodynamic therapy. Although QDS are attractive nanomaterials due to their novel and unique physicochemical properties, concerns about their toxicity remain. We suggest a combination strategy, CdSe/ZnS QDs together with curcumin, a natural yellow pigment from turmeric, to reduce QD-induced cytotoxicity. The aim of this study was to explore a potentially effective cancer treatment: co-exposure of HL-60 cells and human normal lymphocytes to CdSe/ZnS QDs and curcumin. Cell viability, apoptosis, reactive oxygen species (ROS) generation, and DNA damage induced by QDs and/or curcumin with or without ultraviolet A (UVA) irradiation were evaluated in both HL-60 cells and normal lymphocytes. In HL-60 cells, cell death, apoptosis, ROS generation, and single/double DNA strand breaks induced by QDs were enhanced by treatment with curcumin and UVA irradiation. The protective effects of curcumin on cell viability, apoptosis, and ROS generation were observed in normal lymphocytes, but not leukemia cells. These results demonstrated that treatment with QD combined with curcumin increased cell death in HL-60 cells, which was mediated by ROS generation. However, curcumin acted as an antioxidant in cultured human normal lymphocytes.
Apoptosis ; Cell Death ; Cell Survival ; Curcuma ; Curcumin ; Dermatitis, Phototoxic ; DNA ; DNA Damage ; HL-60 Cells ; Humans ; Leukemia ; Lymphocytes ; Nanostructures ; Photochemotherapy ; Photosensitivity Disorders ; Quantum Dots ; Reactive Oxygen Species

OBJECTIVES: This study was designed to evaluate the clinical, histological and immunohistochemical findings and treatment of chronic actinic dermatitis in Korean patients. METHODS: Seventeen Korean patients with chronic actinic dermatitis were enrolled for this study. The clinical and histological findings and the results of phototest were reviewed with medical records, clinical photographs and pathologic slides. We also reviewed the effectiveness of the treatments in all patients with chronic actinic dermatitis. RESULTS: In all patients with chronic actinic dermatitis, pruritus was severe, and the patients present in the early stages with erythemas on the face, neck and the back of the hands. As the eruption progresses, it became lichenified and scaly plaques and papules developed. The face, upper extremity and neck were most commonly affected. The most common abnormal results of the phototests were decreased MED-UVB alone. In 8 patients with actinic reticuloid, histopathologic findings showed irregular acanthosis, parakeratosis, spongiosis, atypical hyperchromatic cells with cerebriform nuclei, epidermotropism, Pautrier-like microabscess, deep perivascular lymphocytic infiltrates, vertically-streaked collagen in the papillary dermis, stellate and multinucleated fibroblasts. Treatment includes topical tacrolimus and corticosteroid, oral corticosteroid, azathioprine and cyclosporine. CONCLUSIONS: Our study showed classic clinical and histological findings. The most common abnormal results of the phototests were decreased MED-UVB alone. Topical steroid, tacrolimus and systemic cyclosporine, azathioprine are effective in treating chronic actinic dermatitis.
Actins ; Azathioprine ; Collagen ; Cyclosporine ; Dermis ; Erythema ; Fibroblasts ; Hand ; Humans ; Medical Records ; Neck ; Parakeratosis ; Photosensitivity Disorders* ; Pruritus ; Tacrolimus ; Upper Extremity

BACKGROUND: Actinic reticuloid is a severe persistent photodermatitis that usually affects older men. It is characterized by extreme photosensitivity to a broad spectrum of ultraviolet radiation. Actinic reticuloid has many of the clinical and histological features of mycosis fungoides and Sezary syndrome. No Korean studies are available regarding a histopathological and immunohistochemical comparison of actinic reticuloid and mycosis fungoides. OBJECTIVE: This study was designed to evaluate the histopathological characteristics and conduct a immunophenotypic analysis to distinguish actinic reticuloid from mycosis fungoides. METHODS: We reviewed the histomorphological findings of 10 patients diagnosed with actinic reticuloid and those of 15 patients diagnosed with mycosis fungoides from 1996 to 2012 at our clinic. In addition, an immunophenotypic analysis was performed on the skin to assess the proportions of CD4+ and CD8+ T cells in all patients. RESULTS: We found a broad overlap in non-specific inflammatory histological features and more prominent histological features between the two diseases. Irregular acanthosis, vertically-streaked collagen in the papillary dermis, thickened and increased blood vessels, and an eosinophil and plasma cell infiltrate were significantly higher in patients with actinic reticuloid than in those with mycosis fungoides. Stuffed lymphocytes in dermal papillae and a psoriasiform lichenoid pattern were observed significantly more often in patients with mycosis fungoides. Solar elastosis (80%) was seen only in the actinic reticuloid cases. CD8-positive T cells were predominant in the epidermis in eight of 10 patients with actinic reticuloid. In contrast, CD4-positive T cells in the epidermis and dermis predominated in the majority of patients with mycosis fungoides (73.3%) compared with CD8-positive T cells. CONCLUSION: Histopathological findings and immunophenotypic analyses may be an important adjunct to distinguish actinic reticuloid from mycosis fungoides, but a correlation with clinicopathological findings, phototest, patch test, and photopatchtest is necessary to reliably distinguish actinic reticuloid from mycosis fungoides. Further prospective studies should be conducted on a larger number of cases regarding the differences between actinic reticuloid and mycosis fungoides.
Actins ; Blood Vessels ; Collagen ; Dermis ; Eosinophils ; Epidermis ; Humans ; Lymphocytes ; Male ; Mycosis Fungoides ; Patch Tests ; Photosensitivity Disorders ; Plasma Cells ; Sezary Syndrome ; Skin ; T-Lymphocytes

BACKGROUND:Determination of the minimal erythema dose (MED) is important for developing a phototherapy protocol and to diagnosis photosensitivity disorders. But obtaining a precise and reproducible MED is quite difficult because a phototest for erythema is based on subjective assessment. OBJECTIVE: The objective of our study was to compare the gross interpretation of a phototest and the objective measurement using a spectrophotometer for determining the parameters of cutaneous narrow-band UVB (NBUVB) therapy. METHODS: A total of 14 psoriasis and 10 vitiligo patients who receiving NBUVB phototherapy with skin types III and IV were selected for this study. To perform phototesting, ten sites on the skin of the back were vertically exposed to a series of 10 NBUVB doses among 14 doses between 340 and 1,400 mJ/cm2. We interpreted the gross findings of erythema and measured the L*a*b* values with using a spectrophotometer at each phototest spot and at the control skin. Also, we evaluate the relationship between the gross presentation and the spectrophotometric analysis by delta E for the assessment of the minimal perceptible erythema (MPE) and MED. RESULTS: For all the subjects, the MEDs were measured in the 490~1,000 mJ/cm2 range. The average of the colorimetric values for the control skin were L*: 64.8, a*: 7.9 and b*: 19.8. Among them, the L* value and MED value were shown to be inversely correlated, and as the L* value was decreased, the MED was increased. For the MPE, the delta E, which was the color difference of the normal skin and the phototest area, was within the range of 1.5~3.0 in 17 of the 21 patients, and 4 patients were within the range of 1.0~1.5. For the MED, among the 21 patients, the delta E of 17 patients was within the range of 3.0~6.0, and 4 patients were within the range of 6.0~12.0. CONCLUSION: A spectrophotometer enables UV erythema to be assessed objectively and quantitatively, and this can compensate for the disadvantages of subjective gross interpretation when determining the MED. Delta E is a good novel and objective indicator for determining the MPE and MED. So, a spectrophotometer is a very useful instrument for developing a phototherapy protocol for psoriasis and other dermatoses and for making the diagnosis of photosensitivity disorders.
Erythema ; Humans ; Photosensitivity Disorders ; Phototherapy ; Psoriasis ; Skin ; Skin Diseases ; Vitiligo

BACKGROUND:Determination of the minimal erythema dose (MED) is important for developing a phototherapy protocol and to diagnosis photosensitivity disorders. But obtaining a precise and reproducible MED is quite difficult because a phototest for erythema is based on subjective assessment. OBJECTIVE: The objective of our study was to compare the gross interpretation of a phototest and the objective measurement using a spectrophotometer for determining the parameters of cutaneous narrow-band UVB (NBUVB) therapy. METHODS: A total of 14 psoriasis and 10 vitiligo patients who receiving NBUVB phototherapy with skin types III and IV were selected for this study. To perform phototesting, ten sites on the skin of the back were vertically exposed to a series of 10 NBUVB doses among 14 doses between 340 and 1,400 mJ/cm2. We interpreted the gross findings of erythema and measured the L*a*b* values with using a spectrophotometer at each phototest spot and at the control skin. Also, we evaluate the relationship between the gross presentation and the spectrophotometric analysis by delta E for the assessment of the minimal perceptible erythema (MPE) and MED. RESULTS: For all the subjects, the MEDs were measured in the 490~1,000 mJ/cm2 range. The average of the colorimetric values for the control skin were L*: 64.8, a*: 7.9 and b*: 19.8. Among them, the L* value and MED value were shown to be inversely correlated, and as the L* value was decreased, the MED was increased. For the MPE, the delta E, which was the color difference of the normal skin and the phototest area, was within the range of 1.5~3.0 in 17 of the 21 patients, and 4 patients were within the range of 1.0~1.5. For the MED, among the 21 patients, the delta E of 17 patients was within the range of 3.0~6.0, and 4 patients were within the range of 6.0~12.0. CONCLUSION: A spectrophotometer enables UV erythema to be assessed objectively and quantitatively, and this can compensate for the disadvantages of subjective gross interpretation when determining the MED. Delta E is a good novel and objective indicator for determining the MPE and MED. So, a spectrophotometer is a very useful instrument for developing a phototherapy protocol for psoriasis and other dermatoses and for making the diagnosis of photosensitivity disorders.
Erythema ; Humans ; Photosensitivity Disorders ; Phototherapy ; Psoriasis ; Skin ; Skin Diseases ; Vitiligo

Hydroa vacciniforme (HV) is a photosensitivity disorder characterized by recurrent necrotic vesiculopapules on sun-exposed areas, which heal spontaneously during adolescence. Recently, an association has been reported between latent Epstein-Barr virus (EBV) infection and atypical HV-like eruption and malignant potential. However, latent EBV infection has also been reported in the setting of typical HV. An 11-year-old girl presented with recurrent, scattered, discrete vesicular eruptions with scarring on the face and the extensor surfaces of both forearms. In-situ hybridization was carried out to detect latent EBV infection. Based on the clinical and histopathological findings, typical EBV-associated HV was suspected.
Adolescent ; Child ; Chimera ; Cicatrix ; Epstein-Barr Virus Infections ; Forearm ; Herpesvirus 4, Human ; Humans ; Hydroa Vacciniforme ; Photosensitivity Disorders

UNLABELLEDTo investigate the expressions of fibrillin-1, elastin and matrix metalloproteinase-1 and -9 (MMP-1, 9) in chronic actinic dermatitis in elderly patients and explore the pathogenesis of the disease.

METHODSTwenty-three patients with chronic actinic dermatitis were examined for the expressions of fibrillin-1, elastin, MMP-1, and MMP-9 with immunohistochemistry in the skin lesions. Image analysis was carried out to measure MMP-1 and MMP-9 expressions semi-quantitatively.

RESULTSIn the skin lesions of patients with chronic actinic dermatitis, elastin expression was obviously reduced or absent in the papillary dermis. The elastic fibers were disorderly arranged in the reticular dermis with local aggregation in some regions. Obvious fibrillin-1 deposition was found in the reticular dermis. Increased expressions of MMP-1, but not that of MMP-9, was found in the skin lesions of the patients.

CONCLUSIONElastin and fibrillin-1 deposition can be found in the skin lesions in patients with chronic actinic dermatitis, suggesting the association of increased MMP-1 expression with the elastic tissue degeneration in the lesions. MMP-9 does not exhibit an obvious association with the pathogenesis of chronic actinic dermatitis in elderly patients.

Aged ; Elastin ; biosynthesis ; Female ; Fibrillin-1 ; Fibrillins ; Humans ; Immunohistochemistry ; Male ; Matrix Metalloproteinase 1 ; biosynthesis ; Matrix Metalloproteinase 9 ; biosynthesis ; Microfilament Proteins ; biosynthesis ; Middle Aged ; Photosensitivity Disorders ; etiology ; metabolism ; Sunlight ; adverse effects