Ermine phenotype has a distinct clinical presentation compared to other syndromes associated with abnormal pigment and deafness. Therefore, this should be included as an independent condition in the differential diagnosis. [ncbi.nlm.nih.gov]

The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. [malacards.org]

G.s as well as his childrens red cells, as shown in table 111, lack a 0 determinant which is specifically recognized by anti-C sera and is present in usual 0+ cells. [docslide.fr]

The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. [reference.md]

• Developmental Delay

  The patient had the striking pattern of skin and hair involvement that characterize the condition, global developmental delay, growth retardation, microcephaly, and bilateral hearing loss. [ncbi.nlm.nih.gov]

  Related symptoms: Autosomal dominant inheritance Intellectual disability Global developmental delay Short stature Microcephaly SOURCES: MONDO UMLS OMIM More info about DYSTONIA 28, CHILDHOOD-ONSET; DYT28 Low match ALBINISM, OCULAR, TYPE I; OA1 Ocular [mendelian.co]

  Deletion of 14-3-3{varepsilon} and CRK: A Clinical Syndrome With Macrocephaly, Developmental Delay, and Generalized Epilepsy. J Child Neurol. 2010 Sep 10. Burrow TA, Bailey LA, Kinnett DG, Hopkin RJ. [cincinnatichildrens.org]

• Photophobia

  Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. [malacards.org]

  Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease. [rarediseases.info.nih.gov]

  […] melanocytes Motor delay Abnormal macular morphology Albinism Hypopigmentation of the fundus Ocular albinism Hypoplasia of the fovea Abnormality of epiphysis morphology Amblyopia Hypopigmentation of the skin Falls Pica Visual impairment Ichthyosis Blindness Photophobia [mendelian.co]

• Retinal Pigmentation

  […] eyes * Lack of retinal pigmentation * Deafness Causes - Ermine phenotype * Brown skin spots * Deafness * Nystagmus * White hair Prevention - Ermine phenotype Not supplied. [checkorphan.org]

  Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. [mendelian.co]

• Decrease in Height

  […] the pinkie finger 0004209 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Muscular hypotonia Low or weak muscle tone 0001252 Nystagmus [rarediseases.info.nih.gov]

• Small Head

  […] skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Muscular hypotonia Low or weak muscle tone 0001252 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Ocular [rarediseases.info.nih.gov]

• Skin Patch

  Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and hypopigmented skin patches [malacards.org]

  Showing of 22 | 80%-99% of people have these symptoms Hypopigmentation of hair Loss of hair color 0005599 Hypopigmented skin patches Patchy loss of skin color 0001053 Sensorineural hearing impairment 0000407 30%-79% of people have these symptoms Intellectual [rarediseases.info.nih.gov]

  This will also result in skin patches to shrink, grow or remain the same. The white patches spread on various body parts such as the limbs, torso, face and groin. Skin discoloration should not be a cause for alarm. [crutchfielddermatology.com]

• Eczema

  Psoriasis, eczema shall interfere with melanin synthesis in a few patients who reports with white discolorations. Long-time in take of certain material medicines is found to produce this pigment disorder. [worldwidehealth.com]

• White Eyebrows

  eyebrow Pale eyebrow 0002226 White eyelashes Blonde eyelashes Pale eyelashes [ more ] 0002227 White hair 0011364 Showing of 22 | Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience [rarediseases.info.nih.gov]

• Hyperpigmentation

  […] color 0001053 Sensorineural hearing impairment 0000407 30%-79% of people have these symptoms Intellectual disability, mild Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ] 0001256 Irregular hyperpigmentation [rarediseases.info.nih.gov]

• Piebaldism

  Griscelli syndrome type 2 0 *Immunologic Deficiency Syndromes *Piebaldism. Griscelli syndrome type 1 0 *Hearing Loss, Sensorineural *Pigmentation Disorders *Piebaldism. Telfer Sugar Jaeger syndrome 0 *Movement Disorders *Piebaldism. [reference.md]

• Hearing Impairment

  Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and hypopigmented skin patches [malacards.org]

  Degenerative vitreoretinopathy Rhegmatogenous retinal detachment Toe walking Vitreoretinopathy Flat capital femoral epiphysis Severe sensorineural hearing impairment Retinopathy Hearing impairment Coarctation of aorta Thin vermilion border Autistic behavior [mendelian.co]

  Showing of 22 | 80%-99% of people have these symptoms Hypopigmentation of hair Loss of hair color 0005599 Hypopigmented skin patches Patchy loss of skin color 0001053 Sensorineural hearing impairment 0000407 30%-79% of people have these symptoms Intellectual [rarediseases.info.nih.gov]

• Nystagmus

  […] eyes * Lack of retinal pigmentation * Deafness Causes - Ermine phenotype * Brown skin spots * Deafness * Nystagmus * White hair Prevention - Ermine phenotype Not supplied. [checkorphan.org]

  EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS Is also known as lowry-wood syndrome;lws;epiphyseal dysplasia-microcephaly-nystagmus syndrome Related symptoms: Autosomal recessive inheritance Intellectual disability Short stature Microcephaly Nystagmus [mendelian.co]

  Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. [malacards.org]

  Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease. [rarediseases.info.nih.gov]

• Ataxia

  MalaCards based summary : Ermine Phenotype, also known as pigmentary disorder with hearing loss, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. [malacards.org]

  Spastic paraparesis Macular dystrophy Erythroderma Paraparesis Macular degeneration Leukoencephalopathy Hip dysplasia Brachydactyly Autism High palate Intrauterine growth retardation Ventricular septal defect Hypospadias Retrognathia Micropenis Gait ataxia [mendelian.co]

Results of extensive workup for several other neurologic, metabolic, mitochondrial, genetic and chromosomal conditions were normal. [ncbi.nlm.nih.gov]

After just 12 light treatments I started seeing color return and after 38 treatments, my condition had almost completely resolved! It's like a mini-miracle! Thank you, thank you, thank you, Dr. Crutchfield". - Donna P. St. Paul. Charles E. [crutchfielddermatology.com]

Treatment - Ermine phenotype Not supplied. Resources - Ermine phenotype Not supplied. [checkorphan.org]

To learn about the symptoms, causes and treatment in details, stay tuned for the next post. [drscabies.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]

[…] and prospective analysis of the influence of benzoyl peroxide Pediatric Dermatology, 2019 Mar;36(2):200-206 2019年4月 青年期の水疱性類天疱瘡 Bullous pemphigoid in adolescence Pediatric Dermatology, 2019 Mar;36(2):184-188 2019年4月 血管腫の外科治療の転帰 Outcomes of surgical treatment [maruho.co.jp]

Prognosis - Ermine phenotype Not supplied. Treatment - Ermine phenotype Not supplied. Resources - Ermine phenotype Not supplied. [checkorphan.org]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

[…] listed below: * White hair * Black locks of hair * Lack of skin pigmentation * Brown skin spots * Nystagmus * Light sensitive eyes * Lack of retinal pigmentation * Deafness Causes - Ermine phenotype * Brown skin spots * Deafness * Nystagmus * White hair Prevention [checkorphan.org]

Please prevent damage to and contamination of the goods. If necessary, please use protective outer packaging. [momokids.pl]

[…] caregiver's knowledge in the management of pediatric atopic dermatitis Pediatric Dermatology, 2019 Jan;36(1):105-109 2019年2月 新生児の皮膚ケア：新生児のバリア機能を維持するためのケアとおむつ皮膚炎の予防の発展 Neonatal skin care: Developments in care to maintain neonatal barrier function and prevention [maruho.co.jp]

Varia- tions in coumarin contents in the plant and insect remain unknown, since lack of insect material prevented us from carrying out replicate analyses. [myslide.es]