Subject(s)
Sweet Syndrome/pathology , Adult , Anti-Infective Agents/therapeutic use , Anti-Inflammatory Agents/therapeutic use , Cyclosporine/therapeutic use , Dapsone/therapeutic use , Dermatologic Agents/therapeutic use , Diagnosis, Differential , Humans , Male , Prednisolone/therapeutic use , Sweet Syndrome/drug therapyABSTRACT
Venous ulcers are the most common type of leg ulcers, accounting for 80% to 90% of cases. We report a large, therapy-resistant ulcer present for three months on the right leg of a 44-year-old woman who also had a huge uterine myoma. Without any other treatment, the leg ulcer regressed spontaneously three months after a hysterectomy for the uterine myoma that had been demonstrated in a CT image to be compressing the right common iliac vein in the pelvis. Uterine myoma can become the cause of venous insufficiency of the leg, when it is big enough to disturb the blood circulation in the pelvis in individuals who have incompetent perforating veins.
Subject(s)
Leiomyoma/surgery , Uterine Neoplasms/surgery , Varicose Ulcer/etiology , Adult , Chronic Disease , Female , Humans , Hysterectomy/methods , Leiomyoma/complications , Leiomyoma/diagnosis , Prognosis , Risk Assessment , Severity of Illness Index , Tomography, X-Ray Computed , Treatment Outcome , Uterine Neoplasms/complications , Uterine Neoplasms/diagnosis , Varicose Ulcer/physiopathology , Wound Healing/physiologyABSTRACT
BACKGROUND: Acetylcholine has been suspected to be a pathogenetic factor for cholinergic urticaria (CU), without definite evidence. In contrast, there are scattered reports of CU associated with acquired generalized hypohidrosis. We have recently examined 2 patients with CU in both of whom we noticed the presence of extensive hypohidrosis that occurred only in winter. OBJECTIVE: In these 2 patients, acquired hypohidrosis due to superficial obstruction of the acrosyringium was suspected as the cause. Both case 1, a 22-year-old Japanese man, and case 2, a 21-year-old Japanese man, began to have anhidrosis and numerous red macules on their body whenever they felt hot in winter. These symptoms ceased to appear in summer. METHODS: We studied histologically their lesional skin in addition to provocation tests for CU. RESULTS: The diagnosis of CU was confirmed by the provocation of typical wheals after physical exercise in both cases. Histological study revealed findings suggestive of the presence of occlusion of the superficial acrosyringium. CONCLUSION: We think that such a hypohidrosis due to occlusion of superficial sweat ducts may also play a role in many other patients with CU of unknown etiology that becomes exacerbated in winter when sweating is not a frequent event.
Subject(s)
Acetylcholine/metabolism , Hypohidrosis/complications , Urticaria/pathology , Adult , Autonomic Nervous System/physiopathology , Biopsy, Needle , Humans , Hypohidrosis/diagnosis , Male , Prognosis , Seasons , Skin Physiological Phenomena , Skin Tests , Sweating/physiology , Urticaria/etiology , Urticaria/physiopathologyABSTRACT
Since 1989, a large number of mutations of the tyrosinase gene, which result in oculocutaneous albinism (OCA), have been reported. However, approximately 15% of patients with tyrosinase-related OCA (OCA1) heterozygously carried an uncharacterized mutation, which presumably existed outside of the ordinarily examined area of the tyrosinase gene. In such cases, polymorphic sequence(s) of the tyrosinase gene might be useful to identify the OCA1 allele. In this study, we examined four polymorphic sequences of the tyrosinase gene in 16 patients with OCA1, their relatives, and 108 normally pigmented Japanese individuals. The results showed a complex dinucleotide repeat in the promoter region at -800 to -900 of seven different lengths, and a polythymidine sequence in the 3' end of intron 2 of three different lengths. Polymerase chain reaction-restriction fragment length polymorphism analysis of two polymorphic sequences at -301 (C/T) and -199 (C/A) in the promoter region allows us to classify the tyrosinase gene into three groups. Using these polymorphic sequences, we could identify the OCA1 allele in more than 80% of cases in which the parents' genomic DNA was available. Three polymorphic sequences in the tyrosinase gene promoter are particularly useful for this purpose.
Subject(s)
Albinism, Oculocutaneous/genetics , Alleles , Monophenol Monooxygenase/genetics , Mutation/genetics , Albinism, Oculocutaneous/diagnosis , Albinism, Oculocutaneous/enzymology , DNA/blood , DNA/genetics , DNA Mutational Analysis , Dinucleotide Repeats , Female , Genotype , Humans , Japan , Male , Monophenol Monooxygenase/blood , Polymorphism, Genetic , Promoter Regions, GeneticABSTRACT
Tyrosinase is a rate-limiting enzyme in the melanin biosynthetic pathway and a complete defect of the enzyme activity caused by homozygous mutations of the tyrosinase gene is well known to result in tyrosinase-negative oculocutaneous albinism (OCA1A) patients who never develop any melanin pigment in the skin, hair and eyes throughout life. In this paper, we report a novel missense substitution, R239W(CGG --> TGG) of the tyrosinase gene in a patient with tyrosinase-negative OCA.
Subject(s)
Albinism, Oculocutaneous/enzymology , Albinism, Oculocutaneous/genetics , Monophenol Monooxygenase/deficiency , Monophenol Monooxygenase/genetics , Mutation, Missense , Amino Acid Sequence , Base Sequence , DNA/genetics , Female , Frameshift Mutation , Heterozygote , Humans , Infant , Male , PedigreeABSTRACT
Bronchogenic cyst, an uncommon developmental anomaly that originates from the primitive tracheobronchial tree, is rare in the skin. The shoulder region is a particularly rare location. We report a 46-year-old Japanese man with recurrent malignant melanoma that arose from such a cutaneous bronchogenic cyst in the left scapular area. Despite wide local excision and subsequent chemotherapy, he died 18 months after surgery of the melanoma because of its lung metastasis. This is the first case of bronchogenic cyst in which malignant melanoma occurred.