Prevalence: - Inheritance: - Age of onset: - ICD-10: - OMIM: 308200 UMLS: C0270709 C1839989 MeSH: C535878 C537365 GARD: 2965 MedDRA: - Summary This disease has been moved to Xp22.3 microdeletion syndrome The documents contained in this web site are presented[orpha.net]
It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice.[whonamedit.com]
Published on Oct 12, 2011 It's the first presentation made by me ever :) Ichthyoses and Ichthyosiform disorders 2. ICHTHYOSES AND ICHTHYOSIFORM SYNDROMES Presented by Dr. Ibrahim Md. Sharaf HMO, Dept. of Skin & VD 3.[slideshare.net]
If hypogonadism, ataxia, retinitis, cardiomyopathy, or dwarfism is present, other diagnosis rather than SLS should be investigated. From the Department of Neurology, Federal University of Sao Paulo, Sao Paulo, Brazil.[journals.lww.com]
[…] hypogonadism he list of signs and symptoms mentioned in various sources for Ichthyosis and male hypogonadism includes the 24 symptoms listed below: Scaly skin Pituitary gonadotropic hormone deficiency Secondary hypogonadism Delayed puberty Seizures Short[checkorphan.org]
In 1929, the Danish physician Einar Rud described a 22-year-old Danish male had ichthyosis, hypogonadism, shortstature, epilepsy, anemia, and polyneuritis.[en.wikipedia.org]
stature, retinitis pigmentosa, polyneuropathy, hypogonadism and severe mental retardation.[whonamedit.com]
CASE REPORT A 16-year-old patient was administered growth hormone for 2 years for shortstature due to LWD. His mother was also affected by the disease and presented with shortstature and Madelung deformity.[medicaljournals.se]
Females with similar Xp22 deletions are phenotypically normal except for shortstature, because they need only one copy of this region to be normal.[endocrine-abstracts.org]
Secondary hypogonadism Delayed puberty Seizures Short stature Long thin fingers Absent eyebrows Sparse eyebrows Glaucoma Undescended testes Small penis Hypothyroidy Small teeth Peripheral retinal pigmentary changes Sparse scalp hair Absent scalp hair Weak[checkorphan.org]
Related symptoms: Autosomal recessive inheritance Generalized hypotonia Hearing impairment Cataract Muscle weakness SOURCES: OMIM MONDO UMLS More info about PEROXISOME BIOGENESIS DISORDER 11B; PBD11B Low match AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND[mendelian.co]
Osteomalacia is a metabolic bone disorder that causes abnormal skeletal changes characterized by generalized reduction in bone density (bone softening) in adults and pseudofractures (apparant on x-ray) with muscular weakness and bone tenderness.[glutenfreeworks.com]
Immunofluorescence of the kidney biopsy specimen revealed positive mesangial immunostaining for C3 and a weak positive for IgM. Electron microscopy revealed glomerular sclerosis. There were many filaments in the glomerulus.[spandidos-publications.com]
In 1929, the Danish physician Einar Rud described a 22-year-old Danish male had ichthyosis, hypogonadism, short stature, epilepsy, anemia, and polyneuritis.[en.wikipedia.org]
Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Please see also our disclaimer . This site complies with the HONcode standard for health information: verify here . Database updated 2019-03-22.[diseasesdatabase.com]
, American College of Physicians-American Society of Internal Medicine, American Medical Informatics Association, Endocrine Society Disclosure: Nothing to disclose.[emedicine.medscape.com]
Pubmed Data : Can Fam Physician. 2007 Mar ;53(3):428-31. PMID: 17872677 Article Published Date : Mar 01, 2007 Study Type : Human: Case Report [ ] Pubmed Data : Int J Cardiol. 2009 Mar 20 ;133(1):e33-4. Epub 2007 Dec 26.[greenmedinfo.com]
Ocular findings were inconsistently reported and included strabismus, blepharoptosis, blepharospasm, glaucoma, cataract, nystagmus, and retinitis pigmentosa. Other systemic includes metabolic, bony, neurologic, and muscular abnormalities.[en.wikipedia.org]
[…] may find interesting Lymphoma and Hypoplasia of penis, related diseases and genetic alterations Hydrocephalus and Delayed myelination, related diseases and genetic alterations Low-set ears and Dental crowding, related diseases and genetic alterations Strabismus[mendelian.co]
Ocular findings were inconsistently reported and included strabismus, blepharoptosis, blepharospasm, glaucoma, cataract, nystagmus, and retinitis pigmentosa. Other systemic includes metabolic, bony, neurologic, and muscular abnormalities.[en.wikipedia.org]
These disorders include deformed feet and hands,24 contracted palmar fascia,25 radial head dislocation,25 proximal muscularatrophy,25 slipped femoral epiphysis,25 and scoliosis.25 In our case, there is no apparent evidence to suggest contiguous gene[docslide.net]
[…] list of signs and symptoms mentioned in various sources for Ichthyosis and male hypogonadism includes the 24 symptoms listed below: Scaly skin Pituitary gonadotropic hormone deficiency Secondary hypogonadism Delayed puberty Seizures Short stature Long thin[checkorphan.org]
Related symptoms: Autosomal recessive inheritance Generalized hypotonia Hearing impairment Cataract Muscleweakness SOURCES: OMIM MONDO UMLS More info about PEROXISOME BIOGENESIS DISORDER 11B; PBD11B Low match AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND[mendelian.co]
الصفحة 38 - Changes in hair weight and hair count in men with androgenetic alopecia, after application of 5% and 2% topical minoxidil, placebo, or no treatment. J Am Acad Dermatol 41:717-721 Price VH, Roberts JL, Hordinsky M et al. [books.google.com]
K L M N O P Q R S T U V W X Y Z Ibids (Ichthyosis-Brittle Hair-Impaired Intelligence-Decreased Fertility-Short Stature) Syndrome Ichthyosiform Erythroderma-Hair Abnormality-Mental And Growth Retardation Syndrome Ichthyosis Follicularis-Atrichia (Or Alopecia[neo-genetics.com]
DiseasesTOC * I cell disease Ib * IBIDS syndrome Ic Icf * ICF syndrome Ich * Ichthyophobia * Ichthyosiform erythroderma corneal involvement deafness * Ichthyosis alopecia eclabion ectropion mental retardation * Ichthyosis and male hypogonadism * Ichthyosis[en.academic.ru]
Also ectropion and scarring alopecia. Nail dystrophy, short stature, cardiac malformations. 24.[slideshare.net]
الصفحة 637 - In vivo epiluminescence microscopy of pigmented skinlesions. I. Pattern analysis of pigmented skinlesions. J Am Acad Dermatol 17:571-583 6. [books.google.com]
Learn more Other less relevant matches: Low match C1q DEFICIENCY; C1QD C1q deficiency is a rare autosomal recessive disorder characterized by recurrent skinlesions, chronic infections, and an increased risk of autoimmune diseases, particularly systemic[mendelian.co]
The skinlesions persist throughout the life of the patient. Extracutaneous manifestations are common, particularly with corneal opacities and cryptorchidism ( 4 ).[spandidos-publications.com]
الصفحة 7 - A et al: A comparison of the efficacy and safety of adapalene gel 0.1% and tretinoin gel 0.025% in the treatment of acnevulgaris: A multicenter trial. [books.google.com]
- A dictionary of medical eponyms Related people Einar Rud Karl Gustaf Torsten Sjögren Tage Konrad Leopold Larsson A syndrome characterised by ichtyosis of the skin, usually present from early infancy, psychomotorretardation, epileptic seizures, short[whonamedit.com]
These mutations are associated with low blood levels of gonadotropin and sex steroid levels throughout life and with a high incidence of microphallus, cryptorchidism and small testes, which can be observed during the neonatal period.[edmcasereports.com]
[…] those of congenital heart disease (eg, fatigue, dyspnea, cyanosis, palpitations, syncope) or neurologic manifestations (eg, color blindness, hearing deficit, epilepsy, paraplegia). [28] Absent or incomplete puberty Some male patients may present with microphallus[emedicine.medscape.com]
[…] and male hypogonadism he list of signs and symptoms mentioned in various sources for Ichthyosis and male hypogonadism includes the 24 symptoms listed below: Scaly skin Pituitary gonadotropic hormone deficiency Secondary hypogonadism Delayed puberty Seizures[checkorphan.org]
- A dictionary of medical eponyms Related people Einar Rud Karl Gustaf Torsten Sjögren Tage Konrad Leopold Larsson A syndrome characterised by ichtyosis of the skin, usually present from early infancy, psychomotor retardation, epileptic seizures, short[whonamedit.com]
A 21-year-old woman presented with seizures, mental retardation, spastic diplegia, and ichthyosis since birth. Computed tomography scan revealed hypodense areas in the periventricular white matter. Skin biopsy demonstrated a lamellar ichthyosis.[journals.lww.com]
Both had ichthyosis from birth and both had grand mal seizures from their first year of life onwards. Both had unilateral cryptorchidism and were operated on at the age of 2 years.[jmg.bmj.com]
الصفحة 399 - Application of retinol to human skin in vivo induces epidermal hyperplasia and cellular retinoid binding proteins characteristic of retinoic acid, but without measurable retinoic acid levels or irritation.[books.google.com]
Related people Einar Rud Karl Gustaf Torsten Sjögren Tage Konrad Leopold Larsson A syndrome characterised by ichtyosis of the skin, usually present from early infancy, psychomotor retardation, epileptic seizures, short stature, retinitis pigmentosa, polyneuropathy[whonamedit.com]
METHODS: Two unrelated women with a disorder showing retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalograms underwent a comprehensive workup[doi.org]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
الصفحة 7 - A et al: A comparison of the efficacy and safety of adapalene gel 0.1% and tretinoin gel 0.025% in the treatment of acne vulgaris: A multicenter trial. [books.google.com]
Treatment - Ichthyosis and male hypogonadism Not supplied. Resources - Ichthyosis and male hypogonadism Not supplied.[checkorphan.org]
Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Please see also our disclaimer . This site complies with the HONcode standard for health information: verify here . Database updated 2019-03-22.[diseasesdatabase.com]
Prognosis - Ichthyosis and male hypogonadism Not supplied. Treatment - Ichthyosis and male hypogonadism Not supplied. Resources - Ichthyosis and male hypogonadism Not supplied.[checkorphan.org]
Birth- collodion baby Before 3 months of age 3-12 months of age Onset EK Lamellar Ichthyosis X-linked Ichthyosis IV Features Tends to become less severe with age Causes serious disability Good Good Prognosis None None Palms and soles Flexures and face[slideshare.net]
"Ichthyosis: etiology, diagnosis, and management". Am J Clin Dermatol. 4 (2): 81–95. PMID 12553849. Van Esch H, Hollanders K, Badisco L; et al. (2005).[wikidoc.org]
"Ichthyosis: etiology, diagnosis, and management". Am J Clin Dermatol 4 (2): 81–95. PMID 12553849. Van Esch H, Hollanders K, Badisco L, et al. (2005).[thefullwiki.org]
Some etiologies, such as autosomal dominant or X-linked Kallmann syndrome, raise the question of hereditary transmission, leading to increasing demands for genetic counseling and monitoring of medically assisted pregnancies.[nature.com]
Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann''''s syndrome): pathophysiological and genetic considerations. Endocr Rev. 1998 Oct. 19(5):521-39. [Medline]. [Full Text].[emedicine.medscape.com]
Kallmann syndrome caused by mutations in the PROK2 and PROKR2 genes: pathophysiology and genotype–phenotype correlations . Front. Horm. Res. 39 , 121–132 (2010). 8. Shoham, Z. , Smith, H. , Yeko, T. , O'Brien, F. , Hemsey, G. & O'Dea, L.[nature.com]
Prevention - Ichthyosis and male hypogonadism Not supplied. Diagnosis - Ichthyosis and male hypogonadism Not supplied. Prognosis - Ichthyosis and male hypogonadism Not supplied. Treatment - Ichthyosis and male hypogonadism Not supplied.[checkorphan.org]
A second patient was found to have a different homozygous mutation in the LH beta subunit gene; the mutation prevented LH heterodimerization and secretion.[emedicine.medscape.com]
Treatment aims to promote the development of secondary sex characteristics, build and sustain normal bone and muscle mass, restore fertility and prevent long-term metabolic complications of hypogonadism such as developing type 2 diabetes mellitus ( 3[edmcasereports.com]