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

Rare diseases in children are characterized by low prevalence, complex pathogenesis, variety, and difficulty in the diagnosis and treatment. With the development of medical services, progress has been made in the diagnosis and treatment of rare diseases. However, due to asymmetric allocation of medical resources at different levels, there are still many shortcomings in the establishment and promotion of the homogenized management system of rare disease diagnosis and treatment. In order to further standardize the homogenized management of rare diseases in children, achieve early and accurate diagnosis and treatment, and improve the quality of life of the children, the Rare Disease Diagnosis and Treatment Center of Tianjin Children's Hospital (Tianjin University Children's Hospital) invited relevant experts in the field to develop recommendations for the management model of homogenized diagnosis and treatment of rare diseases in children from the aspects of information construction, hierarchical diagnosis and treatment, personnel training, scientific popularization, and multi-participation. The recommendations provide reference for the regional homogenization of clinical diagnosis and treatment management system for children with rare diseases.
Humans ; Child ; Rare Diseases/therapy* ; Quality of Life

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

Humans ; Decision Support Systems, Clinical ; Rare Diseases/therapy*

Rare diseases refer to a group of single diseases with low incidence rates, complex pathogeneses, severe disease conditions, and rapid progression. Most rare diseases have a genetic background and may occur in childhood. Paying attention to the rare genetic diseases in children and performing early diagnosis and treatment can effectively delay the course of disease and improve the quality of life of children. Many rare diseases can be diagnosed with the help of various experimental techniques, but the diagnosis of rare diseases is still not widely understood. This article summarizes the laboratory diagnostic techniques currently used for rare genetic diseases in children, so as to provide clues for the diagnosis and treatment of such diseases and help to enhance the theoretical understanding and precise medical treatment of rare genetic diseases in children.
Child ; Humans ; Rare Diseases/therapy* ; Quality of Life

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

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

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

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

Education, Medical ; Humans ; Neoplasms ; therapy ; Rare Diseases ; therapy