A boy, aged 16 months, attended the hospital due to head and facial erythema for 15 months and vulva erythema for 10 months with aggravation for 5 days. The boy developed perioral and periocular erythema in the neonatal period and had erythema and papules with desquamation and erosion in the neck, armpit, and trigone of vulva in infancy. Blood gas analysis showed metabolic acidosis; the analysis of amino acid and acylcarnitine profiles for inherited metabolic diseases and the analysis of organic acid in urine suggested multiple carboxylase deficiency; genetic testing showed a homozygous mutation of c.1522C>T(p.R508W) in the HLCS gene. Finally the boy was diagnosed with holocarboxylase synthetase deficiency and achieved a good clinical outcome after oral biotin treatment. This article analyzes the clinical data of a child with holocarboxylase synthetase deficiency and summarizes the etiology, diagnosis, and treatment of this child, so as to provide ideas for clinicians to diagnose this rare disease.
Humans ; Male ; Biotin/therapeutic use* ; Holocarboxylase Synthetase Deficiency/drug therapy* ; Homozygote ; Mutation ; Rare Diseases/drug therapy* ; Infant

There are more than 7 000 rare diseases and approximately 475 million individuals with rare diseases globally, with children accounting for two-thirds of this population. Due to a relatively small patient population and limited financial resources allocated for drug research and development in pharmaceutical enterprises, there are still no drugs approved for the treatment of several thousands of these rare diseases. At present, there are no drugs for 95% of the patients with rare diseases, and consequently, the therapeutic drugs for rare diseases have been designated as orphan drugs. In order to guide pharmaceutical enterprises to strengthen the research and development of orphan drugs, various nations have enacted the acts for rare disease drugs, promoted and simplified the patent application process for orphan drugs, and provided scientific recommendations and guidance for the research and development of orphan drugs. Since there is a relatively high incidence rate of rare diseases in children, this article reviews the latest research on pharmacotherapy for children with rare diseases.
Humans ; Child ; Rare Diseases/drug therapy* ; Orphan Drug Production ; Pharmaceutical Preparations

In recent years, China's anti-tumor drugs has shown a continuous growth trend, and the activity of anti-tumor research and development in China accounts for a higher proportion in the world. However, further analysis of research and development hotspots show that the research and development of anti-tumor drugs is uneven among different tumor types. Due to the small number of the patients, it is difficult to conduct clinical trials, resulting in less drug development in the field of rare tumors. However, patients' treatment needs will also bring potential opportunities for pharmaceutical companies. The development of basic research and the discovery of new molecular tumor typing make "rare tumors" a dynamic concept. The scope of "rare tumors" may gradually expand with the precise development of treatment; or as the knowledge of tumors gradually develops from histocytology to the molecular level, It is possible that certain tumors with specific mutations can be combined into a group of non-rare "pan-tumors". Rare tumors are characterized by both rare diseases and tumors. Its drug research and development should not only meet the requirements of tumor drug research and development, but also adapt to the characteristics of rare diseases. Therefore, in the drug research and development, we can refer to the research and development principle of rare disease drugs, combine with the characteristics of tumor diseases, make full use of non-rare tumor clinical trials, make full use of scientific tools and exquisite trial design, and realize the promotion of the research and development of rare tumor drugs. This paper will summarize the thoughts in the review of new drugs in the field of rare tumors, in order to provide guidance for the industry.
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Antineoplastic Agents/therapeutic use* ; China ; Humans ; Lung Neoplasms/drug therapy* ; Rare Diseases/drug therapy* ; Research

Ovarian vein thrombosis (OVT) is a rare disease with complications that can be life-threatening. An ovarian vein thrombus in a gestational trophoblastic neoplasia (GTN) is an extremely rare condition that has not been previously reported in the literature. We report the case of a 23-year-old woman who presented with symptoms of amenorrhea for 15 weeks and 6 days along with intermittent lower abdominal pain. She was diagnosed with a hydatidiform mole, and a metastatic workup was scheduled. Abdominal computed tomography showed a right ovarian vein thrombus. She received methotrexate chemotherapy combined with oral anticoagulants. Complete radiological remission was obtained. During the 12-month follow-up period, no disease progression or recurrence was noted. Early recognition and detection of the condition are of the utmost importance. The differential diagnosis of OVT must be considered when there is unexplained abdominal pain, fever, and leukocytosis during the diagnosis and treatment of GTN. A high level of suspicion is required for prompt diagnosis of OVT.
Abdominal Pain ; Amenorrhea ; Anticoagulants ; Diagnosis ; Diagnosis, Differential ; Disease Progression ; Drug Therapy ; Female ; Fever ; Follow-Up Studies ; Gestational Trophoblastic Disease ; Humans ; Hydatidiform Mole ; Leukocytosis ; Methotrexate ; Pregnancy ; Rare Diseases ; Recurrence ; Thrombosis ; Veins ; Venous Thrombosis ; Young Adult

Candida vertebral osteomyelitis (CVO) is a rare disease that is a complication of intravenous drug use, but recently it has been recognized as mostly an opportunistic infection. Because CVO appears to mimic pyogenic spondylodiscitis in terms of the clinical and radiologic presentations, it is often neglected in a usual clinical setting. The clinical, radiological, and biological characteristics of CVO are often used to make a differential diagnosis with vertebral osteomyelitis from other etiologies. Once an initial proper diagnosis was performed, the treatment relies on the prompt initiation of appropriate pharmacotherapy and serial monitoring of the clinical progress. This paper report late-onset CVO in two young patients who underwent a heart transplant surgery and had postoperative systemic candidiasis. These two cases are a good reminder of the potential of CVO in immunosuppressive patients treated with anti-fungal agents. This paper presents these two cases with a review of the relevant literature.
Candida ; Candidiasis ; Diagnosis ; Diagnosis, Differential ; Discitis ; Drug Therapy ; Heart Transplantation ; Heart ; Humans ; Opportunistic Infections ; Osteomyelitis ; Population Characteristics ; Rare Diseases

The luteinizing hormone-releasing hormone/androgen receptor (LHRH/AR) pathway is a promising treatment target in a subgroup of female patients with triple-negative breast cancer (TNBC). However, very little is known about the efficacy of this strategy in male patients with TNBC. In this report, we describe a male patient with AR-positive TNBC who was successfully treated using an LHRH agonist after pretreatment with several lines of chemotherapy and achieved a durable response. We also review the existing evidence supporting LHRH- and AR-targeted therapy for this rare disease.
Breast Neoplasms, Male ; Drug Therapy ; Female ; Gonadotropin-Releasing Hormone ; Goserelin ; Humans ; Lutein ; Male ; Male ; Rare Diseases ; Receptors, Androgen ; Triple Negative Breast Neoplasms

The cutaneous melanoma has been regarded as rare disease entity in Korea for long time but it shows a silent growth recently. Furthermore the management of cutaneous melanoma including staging system, surgical principle, sentinel lymph node biopsy and subsequent complete node dissection and, most importantly, immunotherapy and target therapy against cutaneous melanoma recently. The incidence of cutaneous melanoma is steadily increasing in Korea but its increase is rapid recent 2 decades to 4.3 times and should be greater soon according to the steeper increase of life expectancy. New staging system proposed by American Joint Committee on Cancer (2017) includes changes in individual TNM category and stage groups, particularly from a prognostic viewpoint. Dermoscopy has been successfully introduced in the differential diagnosis of pigmented skin lesion focusing on cutaneous melanoma by non-invasive simple diagnostic tool. Sentinel lymph node biopsy was a issue of long debate whether survival benefit is real or not. Temporary conclusion about this question is reached after two large scale studies and immediate complete node dissection should be performed in a certain situations. Most important change is drug therapy focusing on immunotherapy and target therapy. Braf- and MEK-inhibitor, immune checkpoint inhibitor and PD-1 blocker has been proved to be effective as a sole or combination regimen against advanced and/or high-risk adjuvant setting of cutaneous melanoma. In conclusion, these remarkable changes will be reviewed shortly here.
Dermoscopy ; Diagnosis, Differential ; Drug Therapy ; Immunotherapy ; Incidence ; Joints ; Korea ; Life Expectancy ; Melanoma ; Rare Diseases ; Sentinel Lymph Node Biopsy ; Skin

Hepatoid carcinoma is extrahepatic neoplasm showing similar morphologic, immunohistochemical features with hepatocellular carcinoma. It's a very rare disease and has been reported most frequently in the stomach. Herein, we report a case of hepatoid carcinoma of pancreas presented with acute pancreatitis. The hepatoid carcinoma was diagnosed by his needle biopsy specimen and it showed pleomorphic nuclei and predominantly eosinophilic and occasionally clear cytoplasm in hematoxylin and eosin staining, and positive for HepPar-1 and cytokeratin 19 in immunohistochemical staining. Surgical treatment seems to be the best choice, if possible. However, there is no standard regimen for palliative chemotherapy. In our case, the patient was treated with 5-Fluorouracil (5-FU), folinic acid, irinotecan, oxaliplatin (FOLFIRINOX). The response was stable disease up to 4 month of follow up.
Biopsy, Needle ; Carcinoma, Hepatocellular ; Cytoplasm ; Drug Therapy ; Eosine Yellowish-(YS) ; Eosinophils ; Fluorouracil ; Follow-Up Studies ; Hematoxylin ; Humans ; Keratin-19 ; Leucovorin ; Pancreas* ; Pancreatitis* ; Rare Diseases ; Stomach

Small cell carcinoma (SCC) of the gallbladder is a rare disease. It is an aggressive tumor that tends to metastasis early and is associated with poor prognosis. Median overall survival is reported to be approximately 13 months. Metastatic disease has a worse prognosis, and median overall survival is reported to be approximately 4 months. A 65-year-old male patient was diagnosed with the SCC of the gallbladder and was treated with cisplatin/etoposide chemotherapy followed by radiation therapy. Here, we describe the case of the SCC of the gallbladder who survived more than 3 years followed by the review of the literatures on this disease.
Aged ; Carcinoma, Small Cell* ; Drug Therapy* ; Gallbladder* ; Humans ; Male ; Neoplasm Metastasis ; Prognosis ; Rare Diseases

BACKGROUND/AIMS: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy that typically presents in the form of skin manifestations with or without lymph node and bone marrow involvement. Given its rarity and recent recognition as a distinct pathological entity, no standard of treatment exists for this aggressive disease and its prognosis is particularly dismal. METHODS: We retrospectively analyzed clinical features and treatment outcomes of patients who were diagnosed with BPDCN between 2000 and 2014. RESULTS: Ten patients had a median age at diagnosis of 41 years (range, 18 to 79), and seven patients were male. Sites of disease involvement were the skin (n = 7), lymph node (n = 5), bone marrow (n = 2), liver (n = 2), spleen (n = 2), and soft tissue (n = 1). Intensified chemotherapy regimens such as hyperCVAD regimen (cyclophosphamide, vincristine, doxorubicin, dexamethasone, methotrexate, cytarabine), and VPDL (vincristine, methylprednisolone, daunorubicin, L-asparaginase) were used as a first-line treatment. Although all patients treated with intensified chemotherapy showed an objective response (five patients with complete response) with median progression-free survival of 11.2 months (range 6.2 to 19.4), complete remission was not sustained for more than 2 years in any case. The response was relatively long-lived compared with previously reported CHOP (doxorubicin, cyclophosphamide, vincristine, prednisone)-like regimens, but the above regimens do not result in long-term remission. CONCLUSIONS: All patients treated with hyperCVAD or VPDL showed an objective response, but the duration of response was relatively short. Thus, the development of more effective induction as well as consolidation treatment strategy should be warranted to improve this rare disease entity.
Bone Marrow ; Cyclophosphamide ; Daunorubicin ; Dendritic Cells* ; Dexamethasone ; Diagnosis ; Disease-Free Survival ; Doxorubicin ; Drug Therapy ; Hematologic Neoplasms ; Humans ; Korea* ; Liver ; Lymph Nodes ; Male ; Methotrexate ; Methylprednisolone ; Prognosis ; Rare Diseases ; Retrospective Studies ; Skin ; Skin Manifestations ; Spleen ; Vincristine