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Ichthyosis and Male Hypogonadism

Ichthyosis-Male Hypogonadism Syndrome


Presentation

  • 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]
  • […] and the mitral cells present in the olfactory bulb.[emedicine.medscape.com]
  • 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]
Short Stature
  • […] 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, short stature, 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 short stature due to LWD. His mother was also affected by the disease and presented with short stature and Madelung deformity.[medicaljournals.se]
  • Females with similar Xp22 deletions are phenotypically normal except for short stature, because they need only one copy of this region to be normal.[endocrine-abstracts.org]
Weakness
  • 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]
  • *chicken-pox *water-pox *varicella 【水頭症】*hydrocephaly *hydrocephalus 【水滑液嚢腫】*hygroma ( ヒグローマ) 【水筋腫】*hydromyoma 【水銀性口内炎】*mercurial stomatitis 【水腎症】*hydronephrosis *nephrohydrosis 【水腎盂症】*hydropelvis 【水疱性類天疱瘡】*bullous pemphigoid 【水瘤】*hydrocele (衰) 【衰弱】*weakness[medo.jp]
Physician
  • 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]
Nail Abnormality
  • 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 eye muscles Thin toenails Thin fingernails Nail[checkorphan.org]
Nail Abnormality
  • 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 eye muscles Thin toenails Thin fingernails Nail[checkorphan.org]
Thrombosis
  • Antiphospholipid thrombosis: Clinical course after the first thrombotic event in 70 patients. Ann Intern Med 1992; 117:303-308. ‏ الصفحة 296 - Definition -I 1. Malar rash 2. Discoid rash 3. Photosensitivity 4. Oral ulcers 5. Arthritis 6.[books.google.com]
  • *lung thrombosis 【肺硬化症】*pneumosclerosis 【肺梗塞】*pulmonary infarction *lung infarction 【肺挫傷】*pulmonary contusion *lung contusion 【肺疾患】*pulmonary disease *lung disease 【肺出血】*pulmonary hemorrhage 【肺腫瘍】*lung tumor *lung neoplasm 【肺真菌症】*pneumomycosis 【肺水腫】【[medo.jp]
Oral Ulcers
  • Oral ulcers 5. Arthritis 6. Serositis 7. Renal disorder 8. ‏ الصفحة 637 - In vivo epiluminescence microscopy of pigmented skin lesions. I. Pattern analysis of pigmented skin lesions. J Am Acad Dermatol 17:571-583 6. ‏[books.google.com]
  • ulcer Membranoproliferative glomerulonephritis IgA deposition in the glomerulus Discoid lupus rash Macroscopic hematuria Loss of eyelashes Decreased serum complement factor I Growth delay Fever Nevus Inguinal hernia Cellulitis Splenomegaly Visual loss[mendelian.co]
Small Teeth
  • teeth Peripheral retinal pigmentary changes Sparse scalp hair Absent scalp hair Weak eye muscles Thin toenails Thin fingernails Nail abnormalities Small testes High blood sugar Diabetes mellitus Note that Ichthyosis and male hypogonadism symptoms usually[checkorphan.org]
Microdontia
  • 】*microgenia 【小顎症】*micrognathia 【小眼球症】*microphthalmia 【小球症】*microcytosis 【小結腸症】*microcolon 【小口症】*microstomia 【小膠細胞腫】*microglioma 【小膠細胞症】*microgliosis 【小細胞癌】*small cell carcinoma 【小視症】*micropsia 【小指症】*microdactyly/*microdactylia/*microdactylism 【小歯症】*microdontia[medo.jp]
Strabismus
  • 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]
  • […] blastoma (外)* 【外陰炎】*vulvitis 【外因性過敏性肺胞炎】*extrinsic allergic alveolitis (略 EAA) 【外因性湿疹】*exogenous eczema 【外因性真菌症】*exogenous mycosis 【外因性中毒症】*exogenous toxicosis 【外眼筋麻痺】*external ophthalmoplegia 【外骨症】*exostosis 【外斜位】*exophoria 〈斜視の一種〉 【外斜視】*exotropia *strabismus[medo.jp]
Blepharospasm
  • 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]
  • *ophthalmomalacia 【眼球ミオクローヌス】*ocular myoclonus 【眼筋麻痺】*ocular paralysis *ophthalmoplegia 外眼筋麻痺 【眼瞼アテローム】【眼瞼粉瘤】*blepharoatheroma 【眼瞼炎】*palpebritis *blepharitis *tarsitis 脂漏性眼瞼炎 【眼瞼下垂症】*eyelid ptosis *blepharoptosis 【眼瞼狭小】【眼瞼縮小】*blepharophimosis 【眼瞼痙攣】*blepharospasm[medo.jp]
Muscular Atrophy
  • These disorders include deformed feet and hands,24 contracted palmar fascia,25 radial head dislocation,25 proximal muscular atrophy,25 slipped femoral epiphysis,25 and scoliosis.25 In our case, there is no apparent evidence to suggest contiguous gene[docslide.net]
  • atrophy * Infantile striato thalamic degeneration * Infectious arthritis * Infectious myocarditis * Infective endocarditis * Inflammatory breast cancer * Infundibulopelvic stenosis multicystic kidney * Influenza * Inguinal hernia Ins * Congenital insensitivity[en.academic.ru]
Thin Fingers
  • […] 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]
Muscle Weakness
  • 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]
Alopecia
  • 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]
  • […] disease Limb undergrowth Rhizomelia Functional respiratory abnormality Elevated serum creatinine Thoracic dysplasia Short iliac bones Hypohidrosis Chronic tubulointerstitial nephritis Scoliosis Flexion contracture Hepatomegaly Skeletal muscle atrophy Alopecia[mendelian.co]
Ulcer
  • Oral ulcers 5. Arthritis 6. Serositis 7. Renal disorder 8. ‏ الصفحة 637 - In vivo epiluminescence microscopy of pigmented skin lesions. I. Pattern analysis of pigmented skin lesions. J Am Acad Dermatol 17:571-583 6. ‏[books.google.com]
  • Pseudoxanthoma Elasticum (neck) Follicular Mucinosis (face, neck) Sarcoidosis, Small Nodular Type (neck) Dermatofibrosarcoma Protuberans (neck) Dermatofibrosarcoma Protuberans (neck) Tinea Barbae Profunda (mouth (skin), cheek, neck) Scrophuloderma (neck) X-Ray Ulcer[dermis.net]
  • […] of calvarial morphology Pachygyria Microphthalmia High myopia Glomerulonephritis Immunodeficiency Skin rash Autoimmunity Nephropathy Hematuria Hepatitis Nephritis Systemic lupus erythematosus Keratitis Glomerulopathy Pain Microscopic hematuria Oral ulcer[mendelian.co]
  • 【潰瘍化】【潰瘍形成】*ulceration *helcosis 【潰瘍性偽膜性口内炎】*ulcerative pseudomembranous stomatitis 【潰瘍性偽膜性歯肉炎】*ulcerative pseudomembranous gingivitis 【潰瘍性口内炎】*ulcerative stomatitis 【潰瘍性歯髄炎】*ulcerative pulpitis 【潰瘍性歯肉炎】*ulcerative gingivitis 【潰瘍性舌炎】*ulcerative glossitis[medo.jp]
Skin Lesion
  • الصفحة 637 - In vivo epiluminescence microscopy of pigmented skin lesions. I. Pattern analysis of pigmented skin lesions. 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 skin lesions, chronic infections, and an increased risk of autoimmune diseases, particularly systemic[mendelian.co]
  • The skin lesions persist throughout the life of the patient. Extracutaneous manifestations are common, particularly with corneal opacities and cryptorchidism ( 4 ).[spandidos-publications.com]
Acne Vulgaris
  • 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]
  • RCC) 【腎細胞溶解】*nephrolysis 【腎腫】*nephroma 【腎症】【腎障害】*nephropathy *nephrosis [ネフローゼ] 【腎石】*nephrolith 【腎石症】*nephrolithiasis 【腎疼痛】*nephralgia 【腎毒性】*renal toxicity *nephrotoxicity 【腎杯水腫】*hydrocalycosis 【腎杯蓄膿】*pyocalyx (尋) 【尋常性乾癬】*psoriasis vulgaris[L] 【尋常性ざ瘡】*acne[medo.jp]
Eruptions
  • […] search string search Incontinentia Pigmenti (neck, axilla) Epidermal Nevus (neck, chest, shoulder region) Polymorphic Light Eruption (neck) Corticoid Damage (neck, back of neck) Miliaria Rubra (neck) Acne Comedonica (neck) Burn / Scald, First-Degree ([dermis.net]
  • 【夜間下痢】*nocturnal diarrhea 【夜間歯痛】*nocturnal toothache *toothache in bed 【夜間痛】【夜間疼痛】*nyctalgia 【夜間頻尿症】*nycturia 【夜盲症】*night blindness *nyctalopia ( 鳥目) 【夜盲症患者】*nyctalope (野) 【野兎病】*tularemia (薬) 【薬剤性腎症】*drug nephropathy 【薬剤性肺炎】*drug pneumonia 【薬疹】*drug eruption[medo.jp]
Psychomotor Retardation
  • - 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]
Malar Rash
  • Malar rash 2. Discoid rash 3. Photosensitivity 4. Oral ulcers 5. Arthritis 6. Serositis 7. Renal disorder 8. ‏ الصفحة 637 - In vivo epiluminescence microscopy of pigmented skin lesions. I. Pattern analysis of pigmented skin lesions.[books.google.com]
Microphallus
  • 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]
Seizure
  • […] 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]
  • […] congestion 【全身性エリテマトーデス】*systemic lupus erythematosus (略 SLE) 全身性紅斑性狼瘡 【全身性黄色腫症】*generalized xanthomatosis 【全身性ガングリオシド沈着症】*generalized gangliosidosis 全身性ガングリオシド症 【全身性強皮症】*systemic scleroderma 全身性皮膚硬化症 【全身痙攣】*convulsion 【全身性痙攣発作】*generalized convulsive seizure[medo.jp]
Irritability
  • 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]
  • […] infections * Intrinsic factor, congenital deficiency of Io-Iv * Iodine antenatal infection * Iodine deficiency * Iophobia * Iridocyclitis * Iridogoniodysgenesis, dominant type * Iris dysplasia hypertelorism deafness * Iritis * Irons Bhan syndrome * Irritable[en.academic.ru]
  • […] hyperventilation 【過潅流症候群】*hyperperfusion syndrome 【過形成】*hyperplasia 【過血糖症】*hyperglycemia ( 高血糖症) 【過呼吸】*hyperpnea 【過誤腫】*hamartoma 【過酸症】*chlorhydria *hyperchlorhydria ( 胃酸過多症) 【過色素性】【過染色性】*hyperchromatism 【過量輸液】*hyperhydration 【過敏症】*allergy アレルギー 【過敏性結腸】*irritable[medo.jp]
Polyneuropathy
  • 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]
  • 多発性ニューロパチー 【多発性神経痛】*polyneuralgia 【多発性腸重積症】*multiple intussusception 【多発性動脈炎】*polyarteritis 【多発性内分泌腺腫症】*multiple endocrine neoplasia (略 MEN) 【多発性ニューロパチー】*polyneuropathy 多発性神経障害 【多発性乳頭腫】*polypapilloma 【多発性粘膜神経腫】*multiple mucosal neuroma 【多発性脳梗塞】*multiple[medo.jp]

Workup

  • 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]

Treatment

  • 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

  • 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]

Etiology

  • "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]

Pathophysiology

  • 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

  • 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]

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