Female ; Humans ; Intellectual Disability ; Hypertrichosis ; Amenorrhea

Objective: To summarize and analyze the clinical characteristics and gene mutations of 6 patients with Wiedemann-Steiner syndrome (WDSTS). Methods: To review and analyze the clinical data, including general conditions, clinical manifestations, growth hormone, cranial or pituitary gland magnetic resonance imaging (MRI),gene results and other data, 6 cases with WDSTS admitted to the Department of Endocrinology, Genetics and Metabolism of Jiangxi Provincial Children's Hospital and the Department of Child Care of Pingxiang Maternity and Child Care from April 2017 to February 2021 were recruited. Results: Of the 6 patients, 2 were male and 4 were female. The age of the first visit ranged from 1.0 to 11.2 years. All the 6 children presented with growth retardation and mental retardation and they all had typical facial dysmorphism and hypertrichosis (mainly on the back and limbs). Among them, case 5 had a growth hormone deficiency, and case 2 and 4 had abnormalities revealed by cranial MRI. Variations in KMT2A gene were identified in these 6 patients: c.10900+2T>C,c.10837C>T(p.Gln3613*), c.4332G>A(p.E1444E), c.2508dupC(p.W838Lfs*9), c.11695_11696delinsT(p.T3899Sfs*73), c.9915dupA (p.P3306Tfs*22).Among these variations, c.4332G>A, c.11695_11696delinsT and c.9915dupA were novel mutations. Therefore, the final diagnosis of these patients was WDSTS. Conclusions: Patients presented with short stature and mental retardation, typical facial dysmorphism and hypertrichosis should be considered WDSTS. Whole-exome sequencing plays an important role in disease diagnosis and genetic counseling.
Abnormalities, Multiple ; Child ; Child, Preschool ; Craniofacial Abnormalities ; Female ; Growth Disorders/genetics* ; Histone-Lysine N-Methyltransferase ; Humans ; Hypertrichosis/genetics* ; Infant ; Intellectual Disability/genetics* ; Male ; Myeloid-Lymphoid Leukemia Protein ; Pregnancy ; Syndrome

This is a case of an 11-year-old male who presented with multiple neurofibromas with hypertrichosis. Classic cutaneous neurofibromas, café-au-lait macules, axillary freckling, Lisch nodules, and scoliosis were also present fulfilling a diagnosis of Neurofibromatosis type 1. This is the first report of multiple neurofibromas with hypertrichosis in the Philippines. Hypertrichosis overlying a neurofibroma is rarely reported and the mechanism remains to be elucidated.

No abstract available.
Dermoscopy ; Hair ; Hamartoma ; Hypertrichosis ; Muscle, Smooth

Fibrous hamartoma of infancy (FHI) is a rare entity with a benign nature. The typical clinical features are a single, slowly growing, painless mass on the trunk that appears within the first 2 years of life. We report a 13-month-old boy who presented with a plaque on the lower back since 4 months of age. The plaque had gradually become larger and firm, and hyperhidrosis and hypertrichosis were noticed. No visible connection between the spinal cord and the lesion was found in radiologic studies, indicating a disease other than spinal dysraphism. Histopathological findings showed well-defined fibrous trabeculae, mature adipose tissue, and primitive mesenchymal cells, all consistent with FHI. This is the first case of FHI presenting with hyperhidrosis and hypertrichosis reported in Korea.
Adipose Tissue ; Hamartoma ; Humans ; Hyperhidrosis ; Hypertrichosis ; Infant ; Korea ; Male ; Spinal Cord ; Spinal Dysraphism

No abstract available.
Hypertrichosis* ; Neurilemmoma*

Cantú syndrome (CS, OMIM 239850) is a very rare autosomal dominantly inherited genetic disease characterized by congenital hypertrichosis, neonatal macrosomia, a distinct facial features such as macrocephaly, and cardiac defects. Since the first description by Cantú et al. in 1982, about 50 cases have been reported to date. Recently, two causative genes for CS has been found by using exome sequencing analyses: ABCC9 and KCNJ8 . Most cases of clinically diagnosed CS have resulted from de novo mutations in ABCC9. In this study, we report three independent Korean children with CS resulting from de novo ABCC9 mutations. Our patients had common clinical findings such as congenital hypertrichosis, distinctive facial features. One of them showed severe pulmonary hypertension and hypertrophic cardiomyopathy, which require medical treatment. And, two patients had a history of patent ductus arteriosus. Although two of our patients had shown early motor developmental delay, it was gradually improved during follow-up periods. Although CS is quite rare, there are the concerns about development of various cardiac problems in the lifetime. Therefore, an accurate diagnosis followed by appropriate management and genetic counseling should be provided to CS patients.
Cardiomyopathy, Hypertrophic ; Child ; Databases, Genetic ; Diagnosis ; Ductus Arteriosus, Patent ; Exome ; Follow-Up Studies ; Genetic Counseling ; Humans ; Hypertension, Pulmonary ; Hypertrichosis ; Megalencephaly

No abstract available.
Hyperpigmentation* ; Hypertrichosis* ; Travoprost

Spinal dermal sinus tract (DST) is a rare congenital dysraphism that occurs in approximately one in every 2,500 live births. Many studies have reported that cutaneous stigmata overlying the posterior midline neuroaxis may be associated with dermal sinuses, including abnormal pigmentation, hemangioma, hypertrichosis, and benign sacrococcygeal dimples. Spinal DSTs that are connected with sinuses may have diverse clinical presentations and may involve clinical complications, occasionally caused by a neurologic defect, or infectious complications, including life-threatening conditions such as meningitis. A 3-month-old girl had experienced recurrent meningitis without typical abnormal findings on physical and laboratory examinations. Magnetic resonance imaging (MRI) was performed to evaluate infectious conditions, and DST was found incidentally. Although MRI findings revealed DST, we could not find any small opening on the skin on careful observation. Thus, first-line physicians should keep several important factors in mind when initially evaluating patients with recurrent meningitis, such as cutaneous findings over the midline neuroaxis and early neuroimaging studies for congenital dysraphism.
Christianity ; Female ; Hemangioma ; Humans ; Hypertrichosis ; Infant* ; Infant, Newborn ; Live Birth ; Magnetic Resonance Imaging ; Meningitis* ; Neuroimaging ; Pigmentation ; Skin ; Spina Bifida Occulta*

Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS) syndrome is a monoclonal plasma cell disorder. Patients with POEMS syndrome also have various clinical manifestations including generalized edema, pleural effusion, ascites, papilledema, and sclerotic bone lesions. These manifestations can lead to a misdiagnosis or delayed diagnosis. We recently experienced a 51-year-old male patient with POEMS syndrome whose sclerotic bone lesion was misdiagnosed as malignant bone metastasis of papillary thyroid carcinoma. We reassessed the patient and found polyneuropathy, hepatosplenomegaly, hypothyroidism, partial hypopituitarism, immunoglobulin G lambda-type monoclonal gammopathy, hypertrichosis, ascites, and multiple sclerotic bone lesions, all of which led us to a diagnosis of POEMS syndrome. Treatment with thalidomide and dexamethasone resulted in clinical and radiological improvement. The patient has remained in remission after peripheral blood stem cell transplantation.
Ascites ; Delayed Diagnosis ; Dexamethasone ; Diagnosis ; Diagnostic Errors ; Edema ; Humans ; Hypertrichosis ; Hypopituitarism ; Hypothyroidism ; Immunoglobulin G ; Male ; Middle Aged ; Neoplasm Metastasis* ; Papilledema ; Paraproteinemias ; Peripheral Blood Stem Cell Transplantation ; Plasma Cells ; Pleural Effusion ; POEMS Syndrome* ; Polyneuropathies ; Skin ; Thalidomide ; Thyroid Gland* ; Thyroid Neoplasms*