Zygomycosis (mucormycosis) is a rare fungal infectious disease, usually found in association with an immunocompromised state. Gastrointestinal mucormycosis is extremely rare and fatal, thus it is important to detect and manage this disease at an early stage in an effort to improve survival. To date, no cases of mucormycosis superimposed on gastrointestinal Behcet's disease have been reported. Herein we report a case in which gastrointestinal mucormycosis occurred in a 17-year-old-female with Behcet's disease. The patient recovered from her disease after undergoing an ileocecectomy.
Behcet Syndrome ; Communicable Diseases ; Glycogen Storage Disease Type VI ; Humans ; Intestine, Small ; Mucormycosis

In dermatomyositis, involvement of the skeletal muscles of upper esophagus has been reported in many literatures. However, a number of published reports have suggested that motility disturbances of distal esophagus may also be a cause of dysphagia in dermatomyositis and dysphagia in these cases are mainly caused by crico-pharyngeal obstruction or hypomotility of esophagus. The nutcracker esophagus is the one of common esophageal hypermotility disorders causing dysphagia which is characterized manometrically by high pressure in distal esophagus. Recently, we experienced a patient with dermatomyositis who had complained of dysphagia and was diagnosed as having nutcracker esophagus by mannometry. The association of nutcracker esophagus and dermatomyositis has not been reported in the literature. Moreover, the mechanism of nutcracker esophagus differs with that of esophageal involvement in dermatomyositis. Thereby, we report a patient with dermatomyositis who had nutcracker esophagus in the course of her disease.
Deglutition Disorders ; Dermatomyositis* ; Esophageal Motility Disorders* ; Esophagus ; Glycogen Storage Disease Type VI ; Humans ; Manometry ; Muscle, Skeletal

OBJECTIVE: To explore the clinical features and genetic basis of a patient with glycogen storage disease type VI (GSD-VI). METHODS: Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples of the proband and his parents. Genetic variants were detected by using whole exome sequencing. Candidate variants were verified by Sanger sequencing followed by bioinformatics analysis. RESULTS: The proband presented fasting hypoglycemia, hepatomegaly, growth retardation, transaminitis, metabolic acidosis and hyperlactatemia. Liver biopsy indicated GSD. Novel compound heterozygous PYGL gene variants (c.2089A>G/c.158_160delACT) were detected in the proband. Compound heterozygosity was confirmed by Sanger sequencing of the patient's genomic DNA. Provean and MutationTaster predicted the two variants as deleterious and the variant sites are highly conserved. CONCLUSION The compound heterozygous variants (c.2089A>G/c.158_160delACT) of PYGL gene probably underlay the GSD in the patient. The two novel variants have expanded the spectrum of PYGL gene variants and provided the basis for genetic counseling of the family.
Child ; Family ; Genetic Testing ; Glycogen Storage Disease Type VI/genetics* ; Humans ; Mutation ; Whole Exome Sequencing

Epidermolysis bullosa acquisita (EBA) is an uncommon autoimmune subepidermal blistering disorder and has four clinical subtypes. Among the four types of EBA, the cicatricial pemphigoid-like type is rarer than the other types and clinically the worst one. We experienced a case of cicatricial pemphigoid-like type of EBA in a 69-year-old woman, whose initial symptom was painful erosive lesions of oral mucous membrane before development of ocular and bullous cutaneous lesions. The clinical, histopathological findings and immunoblot assay were all typical of the disease. The course of her disease showed remissions by treatments including corticosteroid and intravenous immunoglobulin, but each time with exacerbations.
Aged ; Blister ; Epidermolysis Bullosa Acquisita* ; Epidermolysis Bullosa* ; Female ; Glycogen Storage Disease Type VI ; Humans ; Immunoglobulins ; Mucous Membrane

Wilms' tumor is the most common malignant renal tumor in childhood. The brain metastasis of a Wilms' tumor with anaplastic histopathology is rare. We present the case of an 8-year-old girl with Wilms' tumor, who presented with multiple brain metastases 5 years after her primary diagnosis. The brain masses were diagnosed after a generalized tonic-clonic seizure attack. The big solid mass in the cerebellum was resected, and whole-brain radiotherapy was performed, after which, she succumbed to her disease. In the case of clinical suspicion, cranial surveillance should be included in the routine clinical work-up for Wilms' tumor. Combined aggressive therapy (surgery+radiotherapy+chemotherapy) should be applied whenever possible, for both better survival and palliative aspects.
Brain* ; Cerebellum ; Child ; Diagnosis ; Drug Therapy ; Female ; Glycogen Storage Disease Type VI ; Humans ; Neoplasm Metastasis* ; Radiotherapy ; Seizures ; Wilms Tumor*

A 42-year-old woman with systemic lupus erythematosus (SLE) has had wide-spread erythemas with some purpuric patches on her trunk and upper extremities during exacerbation of her disease. Biopsy findings from erythematous lesions and purpuric areas revealed the pathology of lupus erythematosus and leukocytoclastic vasculitis (LCV) with immune deposits, respectively. A feature of wide-spread symmetrical erythemas with foci of LCV occurring in this patient is considered to be an unusual presentation.
Adult ; Biopsy ; Erythema* ; Female ; Glycogen Storage Disease Type VI ; Humans ; Lupus Erythematosus, Systemic* ; Pathology ; Upper Extremity ; Vasculitis*

Adenoid cystic carcinoma (ACC) of the breast is a very rare and indolent tumor with a favorable prognosis, despite its triple-negative status. Due to its rarity, there has been no consensus regarding treatments, and treatment guidelines have not been established. Here, we report on six patients with ACC of the breast. All of the patients initially presented with localized disease and no axillary lymph node metastases. Although some of our patients developed local recurrence or distant metastases, all patients had a favorable clinical course, and to date, none of the patients has died from complications of her disease. Here, we described the clinicopathologic features of ACC of the breast and review the current literature.
Adenoids* ; Breast Neoplasms ; Breast* ; Carcinoma, Adenoid Cystic* ; Consensus ; Glycogen Storage Disease Type VI ; Humans ; Lymph Nodes ; Neoplasm Metastasis ; Prognosis ; Recurrence

Adenoid cystic carcinoma (ACC) of the breast is a very rare and indolent tumor with a favorable prognosis, despite its triple-negative status. Due to its rarity, there has been no consensus regarding treatments, and treatment guidelines have not been established. Here, we report on six patients with ACC of the breast. All of the patients initially presented with localized disease and no axillary lymph node metastases. Although some of our patients developed local recurrence or distant metastases, all patients had a favorable clinical course, and to date, none of the patients has died from complications of her disease. Here, we described the clinicopathologic features of ACC of the breast and review the current literature.
Adenoids* ; Breast Neoplasms ; Breast* ; Carcinoma, Adenoid Cystic* ; Consensus ; Glycogen Storage Disease Type VI ; Humans ; Lymph Nodes ; Neoplasm Metastasis ; Prognosis ; Recurrence

There may be some exacerbating factors which aggravate skin lesions of pemphigus foliaceus, including exposure to sun and/or heat. However, the degree of aggravation induced by these factors varies in individuals. We examined possible aggravating factors of skin lesions in a 47-years-old woman with pemphigus foliaceus who had managed her disease with topical and/or sublesional use of corticosteroids for 20 years. The lesion- provoking or exacerbating factors recognized in the patient were sleeplessness/fatigue, emotional stress, menstruation, mechanical trauma, external heat and alcohol.
Adrenal Cortex Hormones ; Female ; Glycogen Storage Disease Type VI ; Hot Temperature ; Humans ; Menstruation ; Pemphigus* ; Skin* ; Solar System ; Stress, Psychological

OBJECTIVE: To explore the clinical features and genetic etiology of a child with glycogen storage disease VI (GSD-VI). METHODS: Clinical data and laboratory results of the patient were collected. Whole exome sequencing (WES) was carried out for the patient. Candidate variant and its parental origin was verified by Sanger sequencing. RESULTS: The patient was a 3-year-and-9-month old boy whom has featured abdominal distention, hepatomegaly, short stature and elevated hepatic transaminase. WES revealed the he has harbored compound heterozygous variants of the PYGL gene, namely c.697G>A (p.Gly233Ser) and c.320dupA (p.Asn107fs). Sanger sequencing has verified that the two variants have derived from his father and mother, respectively. The c.320dupA (p.Asn107fs) variant was unreported previously. CONCLUSION The compound heterozygous variants of the PYGL gene probably underlay the GSD-VI in this patient. Above finding has enriched the spectrum of PYGL gene variants and provided a basis for the treatment and genetic counseling.
Child ; Genetic Testing ; Glycogen Storage Disease Type VI/genetics* ; Humans ; Infant ; Male ; Mutation ; Transaminases/genetics* ; Exome Sequencing