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]

• 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]

• Small Teeth

  […] penis Hypothyroidy Small 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 [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]

• Thin Fingers

  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 abnormalities Small [checkorphan.org]

• 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]

• Sparse 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 abnormalities Small testes High blood sugar [checkorphan.org]

• Discoid 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]

• 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]

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]

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

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