BACKGROUND: Diamond Blackfan anemia (DBA), characterized by impaired red cell production, is a rare condition that is usually symptomatic in early infancy. The purpose of this study was to assess nationwide experiences of DBA encountered over a period of 20 years. METHODS: The medical records of 56 patients diagnosed with DBA were retrospectively reviewed from November 1984 to July 2010. Fifteen institutions, including 13 university hospitals, participated in this study. RESULTS: The male-to-female ratio of patients with DBA was 1.67:1. The median age of diagnosis was 4 months, and 74.1% were diagnosed before 1 year of age. From 2000 to 2009, annual incidence was 6.6 cases per million. Excluding growth retardation, 38.2% showed congenital defects: thumb deformities, ptosis, coarctation of aorta, ventricular septal defect, strabismus, etc. The mean hemoglobin concentration was 5.1+/-1.9 g/dL, mean corpuscular volume was 93.4+/-11.6 fL, and mean number of reticulocytes was 19,700/mm3. The mean cellularity of bone marrow was 75%, with myeloid:erythroid ratio of 20.4:1. After remission, 48.9% of patients did not need further steroids. Five patients with DBA who received hematopoietic transplantation have survived. Cancer developed in 2 cases (3.6%). CONCLUSION: The incidence of DBA is similar to data already published, but our study had a male predilection. Although all patients responded to initial treatment with steroids, about half needed further steroids after remission. It is necessary to collect further data, including information regarding management pathways, from nationwide DBA registries, along with data on molecular analyses.
Anemia ; Anemia, Diamond-Blackfan ; Aortic Coarctation ; Bone Marrow ; Congenital Abnormalities ; Diamond ; Erythrocyte Indices ; Heart Septal Defects, Ventricular ; Hemoglobins ; Hospitals, University ; Humans ; Incidence ; Korea ; Male ; Medical Records ; Registries ; Reticulocytes ; Retrospective Studies ; Steroids ; Strabismus ; Thumb ; Transplants

We report a case of an isolated plexiform neurofibroma occurring in a patient with myasthenia gravis. A 48-year-old man presented with asymptomatic skin-colored nodules on the tip of his 4th finger. Microscopically, a plexiform neurofibroma was identified located in the dermis that appeared to originate from small superficial nerves. He had a 20-year history of treated myasthenia gravis; otherwise, his personal and family histories were unremarkable. Given that myasthenia gravis is a disorder of the peripheral nerves, plexiform neurofibromas could be associated with myasthenia gravis. However, the development of an isolated plexiform neurofibroma in a case of myasthenia gravis has not yet been reported. The occurrence of a neurofibromas in a patient with myasthenia gravis suggests a link in the pathogenesis of these two diseases.
Aluminum Hydroxide ; Carbonates ; Dermis ; Fingers ; Humans ; Middle Aged ; Myasthenia Gravis ; Neurofibroma ; Neurofibroma, Plexiform ; Peripheral Nerves

During a search for keratinocyte differentiation-related genes, we obtained a cDNA fragment from the 5'-untranslated region of a previously identified splicing variant of desmoglein 3 (Dg3). This transcript encodes a protein of 282 amino acids, which corresponds to the N-terminal truncated intracellular domain of Dg3 (Delta NDg3). Northern blot analysis detected a 4.6-kb transcript matching the predicted size of Delta NDg3 mRNA, and Western blot analysis with an antibody raised against the Dg3 C-terminus (H-145) detected a 31-kDa protein. Increased Delta NDg3 expression was observed in differentiating keratinocytes by RT-PCR and Western blot analysis, suggesting that Delta NDg3 is indeed a differentiation-related gene product. In immunohistochemical studies of normal and pathologic tissues, H-145 antibody detected the protein in the cytoplasm of suprabasal layer cells, whereas an antibody directed against the N-terminal region of Dg3 (AF1720) reacted with a membrane protein in the basal layer. In addition, Delta NDg3 transcript and protein were upregulated in psoriatic epidermis, and protein expression appeared to increase in epidermal tumors including Bowen's disease and squamous cell carcinoma. Moreover, overexpression of Delta NDg3 led to increased migration and weakening of cell adhesion. These results suggest that Delta NDg3 have a role in keratinocyte differentiation, and that may be related with tumorigenesis of epithelial origin.
Cell Adhesion ; *Cell Differentiation ; Cell Movement ; Cells, Cultured ; Desmoglein 3/*genetics/*metabolism ; Epidermis/cytology ; Gene Expression ; Humans ; Keratinocytes/*cytology ; Skin Diseases/genetics/metabolism ; gamma Catenin/metabolism

The amniotic band syndrome is a collection of fetal malformations associated with fibrous band that appears to entangle or entrap various fetal part, in utero, leading to deformation, malformation or disruption. Its pathogenesis has been debated in the literature for many years. The associated anomalies vary from minor limb anomalies to major craniofacial defects and visceral defects. We experienced a case of limb anomalies due to amniotic band and present the findings with a brief review of literature.
Amniotic Band Syndrome ; Extremities ; Infant, Newborn

BACKGROUND: Hair constitutes an integral part of our self and our self-identity, which is why hair loss may cause a broad range of psychological problems related to our identity. However, the association between quality of life (QOL) in alopecia areata (AA) patients and their clinical characteristics has not yet been investigated in Korea. OBJECTIVE: The purpose of this study is to compare the QOL in patients with AA and healthy controls by using Hairdex scale. The relationship between their QOL and their clinical characteristics will be investigated. METHODS: 102 AA patients and 82 healthy controls were recruited in this study and compared by use of Hairdex. Correlation analysis was performed to examine the relationship between the QOL and the clinical characteristics of patients with AA. RESULTS: The total Hairdex scores and all domain scores, except those of the symptomatic domain, of the Hairdex scales in AA were higher than those of the healthy controls. Clinical characteristics, including the age, disease duration, AA type, AA area, treatment satisfaction, treatment history, anxiety and depression, showed significant correlation with QOL. Of these characteristics, the depression and treatment satisfaction showed strong association with QOL. CONCLUSION: AA can a impair patient's quality of life and has a significant psychological impact.
Alopecia ; Alopecia Areata ; Anxiety ; Depression ; Hair ; Humans ; Quality of Life ; Weights and Measures

Dermal melanocytosis is histologically characterized by the presence of ectopic melanocytes in the dermis. Mongolian spots, nevus of Ota, nevus of Ito and blue nevus are the most common types and these are usually present at birth or in early childhood. However, it has been reported that several types of dermal melanocytosis could appear in adult life. We report here on an unusual case of acquired dermal melanocytosis occurring in a 51 year-old female. She had bilaterall brownish or slate-bluish pigmented patches on the face and the posterior auricular, supraclavicular, scapular and back areas. The skin biopsy specimen taken from the upper back revealed scattered, darkly pigmented, spindle-shaped cells and dendritic cells containing abundant golden brown pigment in the dermis.
Adult ; Biopsy ; Dendritic Cells ; Dermis ; Female ; Humans ; Melanocytes ; Mongolian Spot ; Nevus ; Nevus of Ota ; Nevus, Blue ; Parturition ; Skin

Trichoblastoma is a benign cutaneous neoplasm that consists of follicular germinative cells. There have only been a few case reports describing the malignant counterpart of trichoblastoma. We report trichoblastic neoplasms that show histological features of malignancy. The histological sections revealed locally aggressive neoplasms showing prominent differentiation towards hair germ and follicular sheath with formation of papillary mesenchymal bodies and follicular bulb-like structures. The tumor was widely excised with a clear margin. No sign of recurrence has been noted 1 year later.
Hair ; Recurrence

Skin lesions can sometimes be the presenting sign of metastatic cancers. We report a case of skin metastasis resembling pyogenic granuloma from hepatocellular carcinoma, which is a common malignancy in Korea. A 79-year-old male presented with a 1 month history of a dark-reddish nodule on his left cheek, which was thought to be pyogenic granuloma. On histopathologic examination, it was composed of tumor cells and intervening sinusoids and therefore showed characteristics of hepatocellular carcinoma. We confirmed hepatocellular carcinoma upon abdomen computer tomography. We present this case along with a review of previous reports of cutaneous metastasis from hepatocellular carcinoma.
Abdomen ; Aged ; Carcinoma, Hepatocellular* ; Cheek ; Granuloma, Pyogenic* ; Humans ; Korea ; Male ; Neoplasm Metastasis* ; Skin

We report a case of thermal keratosis with erythema ab igne which occurred on the dorsal side of a patient's left hand due to chronic exposure to infrared rays. A 62-year-old male presented with reticular hyperpigmentation on the dorsal side of his left hand and left knee along with multiple hyperkeratotic nodules on the dorsal side of his left hand without any symptoms. He had a hobby of playing internet games with a heater on his left side. A skin biopsy of the hyperkeratotic lesion showed hyperkeratosis and acanthosis in the epidermis. The dermis revealed many elastic fibers and superficial perivascular monocytic infiltration. The patient was diagnosed with thermal keratosis and erythema ab igne due to his history of chronic infrared exposure, distinctive clinical characteristics and the biopsy results. The application of topical steroid with the recommendation to cease exposure to heaters resulted in the almost disappearance of the papules and a little restoration of the skin color.
Biopsy ; Dermis ; Elastic Tissue ; Epidermis ; Erythema* ; Hand ; Hobbies ; Humans ; Hyperpigmentation ; Infrared Rays ; Internet ; Keratosis* ; Knee ; Male ; Middle Aged ; Skin

BACKGROUND: Acute diffuse alopecia areata (AA) was described as a unique AA which mimics anagen effluvium, or in which the initial hair loss is diffuse and followed by total denudation of scalp within several weeks or months. In spite of its peculiar clinical feature, there was neither further characterization nor known effective treatment for this form of AA. OBJECTIVE: To evaluate the characteristic clinical findings of acute diffuse AA and confirm the effect of high dose methyl prednisolone therapy. METHODS: The medical records of 13 patients with acute diffuse AA between January 2002 and April 2006 at the Department of Dermatology, Chungnam National University Hospital were reviewed. All patients were treated with high dose methylprednisolone therapy. RESULTS: Of the 13 patients who completed the study, 8 patients (61.5%) were male and 5 patients (38.5%) were female. The mean age was 29.6 years old. The progress of hair loss stopped 2.4 weeks on average after initial treatment and newly emerging hairs were recognized 4.1 weeks on average after initial treatment. 84.6% (11/13) of patients showed terminal hair growth, and 46.2% (6/13) of patients completely responded to this therapy. CONCLUSION: Acute diffuse alopecia areata can occur in male as well as in female patients. High dose methylprednisolone therapy appears to be effective in patients with rapidly progressing acute diffuse alopecia areata to prevent the progression of the disease.
Alopecia Areata* ; Alopecia* ; Chungcheongnam-do ; Dermatology ; Female ; Hair ; Humans ; Male ; Medical Records ; Methylprednisolone ; Prednisolone ; Scalp