Understanding ANA Test Results: Implications for Rare Diseases in Children
Immunoglobulin antibody index My daughter (8 years old) recently experienced abnormal hair loss and underwent blood tests at the hospital. The results showed an ANA titer of 1:640, with further testing revealing 1:640 + Homogeneous (AC-1) and 1:320 + Centromere (AC-3). I would li...
Dr. Lin Sixie Reply:
Hello Peggy: 1. Do these two indices indicate that scleroderma will definitely develop in the future? No. 2. What other tests are needed? Symptoms that are more commonly seen in pediatric scleroderma include localized thickened, shiny rashes or associated joint stiffness. If ther...[Read More] Understanding ANA Test Results: Implications for Rare Diseases in Children
Understanding Hair Loss and Abnormal ANA Levels in an 8-Year-Old
An 8-year-old child with hair loss and abnormal ANA (antinuclear antibody) levels? Hello, a child (8 years old) initially had a small patch of alopecia areata, which later progressed to widespread hair loss. Blood tests showed an antinuclear antibody (ANA) titer of 1:320, with co...
Dr. Lin Sixie Reply:
Hello Peggy: Based on the description, the hair loss does not yet meet the criteria for lupus erythematosus. It is recommended to seek evaluation and treatment from a pediatric dermatologist at a medical center.[Read More] Understanding Hair Loss and Abnormal ANA Levels in an 8-Year-Old
Current Advances in Osteogenesis Imperfecta Treatment and Bisphosphonate Use
Bisphosphonates and Current Medical Treatment for Osteogenesis Imperfecta (OI) Dear Dr. Lin, I am an Osteogenesis Imperfecta (OI) patient. I have been taking Fosamax (Alendronate) once a week from 2002 to 2015 for about 13 years. I remember that before starting medication, from ...
Dr. Lin Ruli Reply:
1. Are there better treatment options for Osteogenesis Imperfecta (OI) in Taiwan and abroad? There are ongoing clinical trials for stem cell transplantation. 2. Does taking Fosamax (Alendronate) lead to previously strong bones becoming more prone to fractures? No, it does not. 3....[Read More] Current Advances in Osteogenesis Imperfecta Treatment and Bisphosphonate Use
Understanding Short Anagen Syndrome: A Mother's Quest for Answers
My daughter? Hello Doctor: I don't understand, so I would like to ask you. My daughter has been diagnosed with Short Anagen Syndrome after some examinations due to her hair appearance. Previously, there were six other cases with the same symptoms, but they were all Western i...
Dr. Jian Yingxiu Reply:
Hello: 1. This diagnosis currently relies on clinical assessment; a physician will attribute the condition to this disease only if they believe there are no other explanations for the phenomenon. Conversely, this disease typically only affects hair growth and can cause psychologi...[Read More] Understanding Short Anagen Syndrome: A Mother's Quest for Answers
Understanding Osteogenesis Imperfecta: Neurological Impacts and Concerns
Neurology Hello Doctor: I am a patient with Osteogenesis Imperfecta (OI). In December 2004, I experienced a severe episode of dizziness that lasted for several days, extending over a month, after which it resolved on its own. However, around November 2006 until now, I have had si...
Dr. Chen Shunsheng Reply:
The condition is relatively complex with numerous questions. It is recommended to seek consultation at a medical center in your area, particularly for discussions with specialists in neurosurgery, neurology, and interventional radiology. If necessary, genetic testing may also be ...[Read More] Understanding Osteogenesis Imperfecta: Neurological Impacts and Concerns
Understanding Osteogenesis Imperfecta: Brain Abnormalities and Symptoms Explained
Department of Genetic Medicine Hello Doctor: I am a patient with Osteogenesis Imperfecta (OI). In December 2004, I experienced a severe episode of dizziness that lasted for several days, extending over a month, after which it resolved on its own. However, around November 2006 unt...
Dr. Jian Yingxiu Reply:
Your condition may be due to other causes of osteoporosis leading to increased fracture risk, such as atypical osteogenesis imperfecta type I or type IV. Please consult your physician regarding relevant tests for OI to confirm the diagnosis.[Read More] Understanding Osteogenesis Imperfecta: Brain Abnormalities and Symptoms Explained
Understanding Osteogenesis Imperfecta: Brain Abnormalities and Symptoms Explained
I'm sorry, but I need specific content to translate. Please provide the text Hello Doctor: I am a patient with Osteogenesis Imperfecta (OI). In December 2004, I experienced a severe episode of dizziness that lasted for several days and extended beyond a month, but it eventua...
Dr. Lin Xuanpei Reply:
It is unclear how old this adult internet user is or what their gender is. Osteogenesis imperfecta (OI) typically does not involve brain lesions. If the user's neurological symptoms are not due to other factors, it is essential to consider the possibility of cervical spinal ...[Read More] Understanding Osteogenesis Imperfecta: Brain Abnormalities and Symptoms Explained
Understanding Moyamoya Disease: Rare Condition and Disability Benefits
Moyamoya disease I would like to ask if hairy vascular malformations are considered a rare disease? Can one apply for a major illness certificate or a disability card? I have surgery scheduled on the 18th, so I would like to know... Thank you!
Dr. Jian Yingxiu Reply:
Moyamoya disease is not classified as a rare disease by the government.[Read More] Understanding Moyamoya Disease: Rare Condition and Disability Benefits
Understanding Rare Conditions: Café-au-Lait Spots and Osteoporosis in Teens
Coffee milk spots? Osteoporosis? Low parathyroid hormone? Dear Doctor, I developed café-au-lait spots on my right chest measuring over 40 square centimeters and hair growth (4-5 cm) at the age of 13. At 18, I was diagnosed with osteoporosis at a 2-3 degree level (with normal endo...
Dr. Ke Yuyuan Reply:
Hello: Based on your symptom description, it does not strongly align with fibrous dysplasia. I recommend that you visit a hospital with an endocrinology subspecialty for further diagnosis and to confirm the underlying cause, so as not to delay your condition. (I apologize for the...[Read More] Understanding Rare Conditions: Café-au-Lait Spots and Osteoporosis in Teens
Understanding Scalp Pain: Causes and Concerns Beyond Injury
Scalp pain or scalp tenderness? Hello doctor, for the past two days, I've been experiencing unexplained sharp pain on the scalp at the top right side of my head. I haven't bumped my head or sustained any injuries. The pain started suddenly when I woke up in the morning,...
Dr. Chen Shunsheng Reply:
The scalp on the right side of the head is experiencing unexplained sharp pain, without any trauma or injury, and there is no redness or swelling. Even brushing the hair causes pain. Several important conditions to consider include: temporal arteritis, postherpetic neuralgia, mig...[Read More] Understanding Scalp Pain: Causes and Concerns Beyond Injury
Understanding Rare Hair Loss in Children: A Parent's Journey
Alopecia areata Hello Dr. Jian, my child is 10 years old this year. He was hospitalized for pneumonia in April 2005 and received the pneumococcal vaccine at the end of May 2005. By early June, he lost all his body hair. Subsequently, the doctor referred us to the dermatology depa...
Dr. Jian Yingxiu Reply:
Your question is quite complex and requires consultation with an immunologist. Thank you.[Read More] Understanding Rare Hair Loss in Children: A Parent's Journey
Concerns About Short Stature: Understanding Growth and Development in Adolescents
Short stature? Hello, doctor. My son is going to start junior high school this year and he is a boy currently measuring 158 cm in height. I have been worried about whether he will grow taller because his Adam's apple is already quite prominent, and he has a lot of pubic hair...
Dr. Lin Xiujuan Reply:
To schedule an appointment for the Pediatric Endocrinology Special Clinic at our hospital, please visit the Pediatric Genetics and Endocrinology Department during the consultation hours and obtain the physician's consent for an additional appointment.[Read More] Concerns About Short Stature: Understanding Growth and Development in Adolescents
Understanding Gender Dysphoria: A Journey Through Rare Disorders
Disorder of Secondary Sexual Characteristics? Hello Dr. Hou, I am a 40-year-old male, but life has played a trick on me, as my physique is almost feminine (a normal triangle shape rather than the male inverted triangle). This means I have some female characteristics; for instanc...
Dr. Hou Jiawei Reply:
Secondary sexual characteristics and body changes are initiated with sexual development; however, boys can also secrete small amounts of estrogen, and girls can secrete small amounts of androgens. As a result, some girls may experience denser body hair and fine, light-colored hai...[Read More] Understanding Gender Dysphoria: A Journey Through Rare Disorders
Understanding Hair Loss During Dialysis: Causes and Solutions
Hemodialysis Hello Professor Lin, I would like to ask you about something. Recently, for some unknown reason, I have been experiencing significant hair loss, especially during the 4-hour dialysis sessions when I lose a particularly large amount of hair. After washing the bed line...
Dr. Lin Qingyuan Reply:
Hello: I need to see the patient and perform some examinations to determine the diagnosis.[Read More] Understanding Hair Loss During Dialysis: Causes and Solutions
Understanding Muscle Weakness and Brain Control in Rare Disorders
Muscle strength is often difficult to achieve and requires brain control? Currently diagnosed conditions include: 1. Right chest depression, 2. Flat feet, 3. Knee deformity (the physician noted that one leg appears X-shaped while the two legs cannot be aligned like an O shape). I...
Dr. Chen Shunsheng Reply:
The described symptoms are numerous and scattered across various bodily systems, making it difficult to consolidate them into a specific syndrome or disease. It is recommended to visit a nearby hospital with a neurology department for evaluation and treatment by a neurologist.[Read More] Understanding Muscle Weakness and Brain Control in Rare Disorders
Understanding Rare Headaches: When Pain Radiates to Your Teeth
Headache Hello Dr. Lai: I have been experiencing headaches for over a year, and my pain is quite unusual. Once, while washing my hair, I suddenly pulled on my scalp forcefully at a specific point on the right front part of my head, and that pain suddenly radiated to the nerves in...
Dr. Lai Xiangrong Reply:
Your pain is indeed unusual. The forehead is controlled by the first branch of the trigeminal nerve - the ophthalmic branch, while the teeth and lower jaw are managed by the third branch - the mandibular branch of the trigeminal nerve. Typically, the ophthalmic branch does not af...[Read More] Understanding Rare Headaches: When Pain Radiates to Your Teeth
Understanding Rare Disorders: A 28-Year-Old with Unusual Aging Symptoms
A 28-year-old person who looks like they are 50 years old? Hello Doctor, I am a 28-year-old male presenting with the following symptoms: 1. Almost complete hair loss, with no hair roots in the central part of my scalp and low hair density on the sides (I started experiencing ...
Dr. Hou Jiawei Reply:
The presence of typical frontal baldness or male pattern baldness that begins in the twenties to thirties is highly indicative of androgenetic alopecia. Additionally, abnormal thick hair growth on the chest and back that does not grow tall may suggest excessive secretion of adren...[Read More] Understanding Rare Disorders: A 28-Year-Old with Unusual Aging Symptoms
How to Schedule an Appointment for Rare Genetic Disorders?
How to make an appointment for a contracted outpatient service? Dear Dr. Lin, Hello. My daughter has been experiencing recurrent hair breakage. I previously consulted Dr. Jian (Jian Ying-Hsiu), who suggested that I take her to a pediatric genetics clinic. Since I live in Tainan ...
Dr. Lin Xiujuan Reply:
Due to issues related to hair, it is within the scope of dermatologists. The medical team at the Chang Gung Genetic Center recommends that you consult with Dr. Chao Hsiao-Chiu or Dr. Lee Yu-Yun in dermatology. If you wish to schedule a special appointment for genetic counseling a...[Read More] How to Schedule an Appointment for Rare Genetic Disorders?
Understanding Ectodermal Dysplasias: Diagnosis, Care, and Management Tips
Ectodermal Dysplasias 1. Can the diagnosis of Ectodermal Dysplasias be established solely based on symptoms and the child's appearance? 2. Is genetic testing necessary to confirm the diagnosis? 3. Are there differences between anhidrotic and hydrotic Ectodermal Dysplasias? H...
Dr. Zhao Meiqin Reply:
Ectodermal dysplasia refers to the abnormal development of ectodermal tissues such as hair, nails, sweat glands, teeth, and the respiratory or digestive systems. It can be classified into two major categories based on sweat gland development. Most patients exhibit a range of clin...[Read More] Understanding Ectodermal Dysplasias: Diagnosis, Care, and Management Tips
Finding Pediatric Genetic Counseling for Rare Hair Disorders in Taiwan
Hair issues? Hello, I have received your reply. You suggested that I seek the opinion of a pediatrician at a nearby genetic counseling center. However, after checking several hospitals, I did not find any such clinics. Could you please recommend which hospitals in central and sou...
Dr. Jian Yingxiu Reply:
Hello, the certified genetic centers by the Department of Health include Dr. Fu-Jen Tsai from the Department of Pediatrics and Genetics at China Medical University in Taichung, Dr. Hsiu-Chuan Lin from National Cheng Kung University Hospital, Dr. Bao-Chin Chiu from Kaohsiung Veter...[Read More] Finding Pediatric Genetic Counseling for Rare Hair Disorders in Taiwan