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]

• Hemophilia A

  […] sickness 【血栓症】*thrombosis 【血栓性静脈炎】*thrombophlebitis 【血栓性動脈内膜炎】*thromboendarteritis 【血栓塞栓症】*thromboembolism 【血痰】*bloody sputum *hemosputum *sputum cruentum[L] 【血鉄症】*hemosiderosis 【血糖症】*glycemia 【血尿】*hematuria *erythruria [赤血球尿症] *urina cruenta[L] 【血友病】*hemophilia [medo.jp]

• Anemia

  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]

  Treatment The patient started treatment with tertian hypodermic erythropoietin for anemia, and hemodialysis and peritoneal dialysis for the management of renal failure. The patient was discharged whilst on peritoneal dialysis. [spandidos-publications.com]

  】*malignant ameloblastoma 【悪性高熱症】*malignant hyperthermia 【悪性黒色腫】*malignant melanoma (略 MM) 【悪性腫瘍】*malignant tumor *malignancy 【悪性新生物】*malignant neoplasm (＝悪性腫瘍) 【悪性組織球症】*malignant histiocytosis (略 MH) 【悪性中皮腫】*malignant mesothelioma 【悪性貧血】*pernicious anemia [medo.jp]

• Sepsis

  As the skin barrier is severely compromised, neonates are more prone to sepsis, dehydration, and impaired thermoregulation. Treatment with oral retinoids encourages shedding of the grossly thickened skin. [mendelian.co]

  […] pseudomembranous gastritis 【偽嚢胞】*pseudocyst 【偽狼瘡】*pseudolupus 【逆性乳頭腫】*inverted papilloma (＝内翻性乳頭腫) 【逆蠕動】*reversed peristalsis *antiperistalsis 【牛型結核】*bovine tuberculosis 【凝固障害】*coagulopathy (＝血液凝固障害) 【魚鱗癬】*ichthyosis 【グラム陰性菌敗血症】*gram-negative bacteria sepsis [medo.jp]

• Myxedema

  Anus-Polydactyly Syndrome Incontinentia Pigmenti (Ip) Incontinentia Pigmenti 1 Incontinentia Pigmenti Achromians (Ipa) Infancy-Onset Diabetes Mellitus-Multiple Epiphyseal Dysplasia Syndrome Infantile Bilateral Striatal Necrosis (Ibsn) Syndrome Infantile Myxedema-Muscular [neo-genetics.com]

  […] symmelia (＝合肢症、下肢癒着症) 【熱虚脱】*heat collapse 【熱射病】*thermoplegia 【熱性痙攣】*febrile convulsion 【熱帯性下痢】*tropical diarrhea 【熱帯性肺好酸球増加症】【熱帯性肺好酸球増加】*tropical pulmonary eosinophilia 【粘液癌】*mucinous carcinoma 【粘液腫】*myxoma 【粘液腫症】*myxomatosis 【粘液神経膠腫】*myxoglioma 【粘液水腫】*myxedema [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]

• Collapse

  【虚脱性硬化】*atelectatic induration 【虚脱性肺炎】*collapse pneumonia 【虚脱性譫妄】*collapse delirium 【虚脱脈】*collapsing pulse (頬) 【頬炎】*melitis 【頬部白線】 *linea alba buccalis[L] (胸) 【胸郭出口症候群】*thoracic outlet syndrome (略 TOS) 【胸郭披裂症】【胸郭裂症】*thoracoschisis (＝胸裂症) 【胸腔漏】*pleurorrhea [medo.jp]

• Respiratory Insufficiency

  Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013 ).There [mendelian.co]

• 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]

  Treatment with oral retinoids encourages shedding of the grossly thickened skin. [mendelian.co]

• Aphthous Ulceration

  【アフタ性咽頭炎】*aphthous pharyngitis 【アフタ性潰瘍】 *aphthous ulcer 【アフタ性口内炎】 *aphthous stomatitis 【アフタ性歯肉炎】 *aphthous gingivitis 【アミロイド症】【アミロイドーシス】*amyloidosis ＝類澱粉沈着症 【アメーバ症】*amebiasis 【アメーバ性下痢】*amebic diarrhea 【アメーバ性大腸炎】*amebic colitis 【アメーバ性赤痢】*amebic dysentery [medo.jp]

• Periodontitis

  […] 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 colon 【過敏性肺炎】*hypersensitivity pneumonia (化) 【化学性歯周炎】*chemical periodontitis [medo.jp]

• Long Arm

  A highly homologous unprocessed STS pseudogene is located on the proximal long arm of the human Y chromosome. [ommbid.mhmedical.com]

• 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]

• 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]

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]