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]

[…] and the mitral cells present in the olfactory bulb. [emedicine.medscape.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]

• Atrial Septal Defect

  Fatigue, dyspnea, cyanosis, palpitations, syncope Patients with Kallmann syndrome may have any of these symptoms as manifestations of congenital heart disease such as atrial septal defect (ASD), ventricular septal defect (VSD), Ebstein anomaly, transposition [emedicine.medscape.com]

  […] flutter *auricular flutter 【心房中隔欠損症】*atrial septal defect (略 ASD) 【心房粘液腫】*atrial myxoma 【心膜炎】*pericarditis (唇) 【唇外反】*eclabium 【唇顎口蓋裂】*cheilognathopalatoschisis 【唇顎裂】【唇顎披裂】*cheilognathoschisis 【唇発育不全】*atelocheilia 【唇裂】*cleft lip *cheiloschisis (＝口唇裂) [medo.jp]

• 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]

• Anosmia

  In the first patient a history of cryptorchidism and the clinical findings of anosmia, micropenis and bimanual synkinesis suggested a contiguous gene syndrome, comprising X-linked Kallmann's syndrome and X-linked ichthyosis. [researchprofiles.herts.ac.uk]

  Critical clues are anosmia, absence of menstrual periods, family history of delayed puberty and the presence of other malformations (skeletal, renal, cardiac) in close family members. [edmcasereports.com]

  Perrin JCS, Idemoto JW, Sotos JF, Maurer WF, Steinberg AG (1976) X-linked syndrome of congenital ichthyosis, hypogonadism, mental retardation and anosmia. Birth Defects 12:267–274 Google Scholar 7. [springerlink.com]

  Introduction: Kallmann Syndrome (KS) is a genetically heterogeneous disease characterised by hypogonadotrophic hypogonadism with anosmia or hyposmia. [endocrine-abstracts.org]

• Dyspnea

  […] childhood with telangiectasia and pigmentary anomalies on sun-exposed areas, tendon contractures that tend to involve the ankles and feet with gait disturbances, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea [mendelian.co]

  All patients with Kallmann syndrome have either anosmia or severe hyposmia and may exhibit symptoms of associated conditions including those of congenital heart disease (eg, fatigue, dyspnea, cyanosis, palpitations, syncope) or neurologic manifestations [emedicine.medscape.com]

  空胞細胞症) 【コクシジウム症】*coccidiosis 【コラーゲン炎】*collagenitis 【コルサコフ症候群】*Korsakoff syndrome 【コレラ】*cholera 【コレステロール塞栓症】*cholesterol embolism *atheroma embolism 【コレラ性下痢】*cholera diarrhea/*choleraic diarrhea 【コンジローマ】*condyloma (呼) 【呼吸緩徐】【呼吸緩慢】*bradypnea (＝徐呼吸) 【呼吸困難】*dyspnea [medo.jp]

• Pertussis

  […] hypertrophicus[L] 【肥大】*hypertrophy *a) hypertrophic 【肥大型心筋症】*hypertrophic cardiomyopathy (略 HCM) 【肥満症】*obesity *corpulence/*corpulency *adiposity 【肥満細胞腫】*mastocytoma 【肥満細胞症】*mastocytosis (飛) 【飛行疲労】*flying fatigue 【飛蚊症】*myodesopsia (百) 【百日咳】*whooping cough *pertussis [medo.jp]

• Alopecia

  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]

  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]

  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]

• Erythema

  Read More » Psoriasis: definition 1,507 Views A chronic relapsing dermatosis characterized by scaling, erythema (redness), and less commonly pustulation that is an associated disorder of celiac disease involving deficiencies of omega-3 fatty acids, vitamin [glutenfreeworks.com]

  (neck) Histiocytosis X (temples, neck) Nevocytic Nevus (neck) Polymorphic Light Eruption (neck) Scleroedema Adultorum Buschke (neck) Tinea Barbae Profunda (face, mouth (skin), neck) Atopic Eczema (neck, elbow flexure) Pseudoxanthoma Elasticum (neck) Erythema [dermis.net]

  AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED; APLAID Is also known as ;aplaid Related symptoms: Autosomal dominant inheritance Cataract Infantile onset Recurrent infections Erythema SOURCES: ORPHANET OMIM UMLS MONDO [mendelian.co]

  […] multiforme exudativum[L] 【多形滲出性紅斑様薬疹】*erythema multiforme exudativum-like drug eruption 【多形性紅斑】*erythema multiforme[L] 【多形性腺腫】*pleomorphic adenoma 【多形性肉腫】【多形型肉腫】*pleomorphic sarcoma 【多形皮膚萎縮症】*poikiloderma 【多血球症】*polyglobulism 【多血症】*polycythemia ^＝赤血球増加症 [medo.jp]

• Hyperactivity

  In addition, approximately 40% of children suffer impaired attention deficit hyperactivity disorder. 25% of patients have an autistic spectrum or related communication difficulties and language. [ivami.com]

  X-Linked ich- thyosis (steroid sulfatase deficiency) is associated with in- creased risk of attention deficit hyperactivity disorder, au- tism and social communication deficits. J Med Genet. 2008;45:519\u2013524. 229. [passeidireto.com]

  Attention deficit hyperactivity disorder (ADHP) was suspected initially, but only the patient’s depression, which was probably related to the disease as well as his short stature and skin appearance, was evident after hospitalization. [medicaljournals.se]

  […] poikiloderma 【多血球症】*polyglobulism 【多血症】*polycythemia ^＝赤血球増加症 【多言症】*hyperlalia 【多呼吸】*polypnea *tachypnea [頻呼吸] 【多合指症】*polysyndactyly 【多節症】*polymeria 【多足症】*polypodia 【多臓器不全】*multiple organ failure (略 MOF) 【多動症】*hyperanakinesia/*hyperanakinesis *hyperkinesia *hyperactivity [medo.jp]

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]

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]

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]

Patients typically require lifelong treatment and special attention to complications such as osteoporosis, infertility and type 2 diabetes mellitus ( 3 ). [edmcasereports.com]

Men and women with CHH frequently seek treatment for infertility after hypogonadism therapy. [nature.com]

Treatment - Ichthyosis and male hypogonadism Not supplied. Resources - Ichthyosis and male hypogonadism Not supplied. [checkorphan.org]

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]