Cafι au lait macule macules were present over the right arm and left loin. 3 cm × 3 cm reddish oval plaque present over the right paraspinal area of back [Figure 2] and [Figure 3]. [ijpd.in]

This case is present for rare presentation of the condition with unusual associations. 1. Sybert VI. Hypomelanosis of Ito. Pediatr Dermatol 1990; 7:74-76. 2. Patel AB, Renge RL. Hypomelanosis of Ito. Indian Pediatr.2000; 37: 1386. 3. [webmedcentral.com]

Moreover, the present analysis allows to support some hypotheses already proposed in the literature, concerning the modalities of determination of the absence of d triradius. [moh-it.pure.elsevier.com]

Structural or numerical chromosomal aberrations present in these clones of cells have been linked with this entity. [emedicine.medscape.com]

Case presentation A 6-month-old Caucasian girl presented with unilateral areas of hypomelanosis distributed on the left half of her body and her father presented with similar mosaic hypopigmented lesions on his upper chest. [jmedicalcasereports.biomedcentral.com]

• Epilepsy

  Extracutaneous manifestations: intellectual disability and epilepsy: seizures commonly appear early and generally are refractory to anticonvulsant drugs a variety of non-specific ocular alterations dental: defective dental implantation, conical teeth, [radiopaedia.org]

  A case of incontinentia pigmenti achromians associated with mental retardation, epilepsy, short stature and ocular anomalies was reported. [ncbi.nlm.nih.gov]

  She presents a partial symptomatic drug-resistant epilepsy since the age of 4 months. Seizures were reduced in frequency by an add-on therapy with vigabatrin. [moh-it.pure.elsevier.com]

  The patient started to have multiple episodes of seizures since the age of 11 years, and he was put on phenytoin, clobazam, and levetiracetam for the management of epilepsy. [pigmentinternational.com]

• Nail Abnormality

  Hair, tooth, and nail abnormalities can also be seen. [10] Thorough dermatologic, neurologic, and ophthalmologic examinations are extremely important given the heterogeneity and potential severity of HI. [ijpd.in]

  Hair, tooth, and nail abnormalities can also be seen.[10] Thorough dermatologic, neurologic, and ophthalmologic examinations are extremely important given the heterogeneity and potential severity of HI. [journals.lww.com]

  Hair, tooth, and nail abnormalities can also be seen. Ophthalmologic abnormalities include strabismus, nystagmus, congenital cataracts, and various other nonspecific findings. A number of dental and craniofacial abnormalities can be seen. [file.scirp.org]

  Dental Exam and Findings Dental problems occur in nearly 70% of affected individuals.[3] Even a limited dental exam will often yield missing, small, or abnormally shaped teeth. General examination may also yield alopecia and nail abnormalities. [eyewiki.aao.org]

• Asymptomatic

  These lesions were asymptomatic and were not preceded by any vesiculobullous, hyperkeratotic or hyperpigmented lesions. There was no history of seizure disorder, neurological deficit or any behavioral disturbance in the patient. [odermatol.com]

  […] occasionally on the extremities and rarely on the face. [2] Most patients have multisystem involvement and may show chromosomal mosaicism, the most common being neurological, muscular, skeletal and ocular. [3], [4] A 14 year old boy from Kerala presented with asymptomatic [e-ijd.org]

  Case Report A 5-year-old male child was referred from pediatric department for few asymptomatic hypopigmented lesions over the trunk bilaterally present since birth [Figure 1]. [ijhas.in]

  Appropriate genetic counseling along with evaluation of other siblings was undertaken although all the other siblings and parents were asymptomatic. Patient was advised to be on regular follow up every 6 monthly. [heraldopenaccess.us]

  The clinical manifestations of IP are highly variable, from subclinical or asymptomatic in individuals who are diagnosed only after testing because of an affected family member, to severe and disabling symptoms that manifest at birth. [cancertherapyadvisor.com]

• Trisomy 21

  Teaching NeuroImages: hypomelanosis of Ito. ( 23509054 ) Khaku A.S....Nayak A. 2013 22 Hemimegalencephaly in a Patient With Coexisting Trisomy 21 and Hypomelanosis of Ito. ( 23266943 ) Okanari K....Izumi T. 2012 23 Hypomelanosis of Ito: neurological [malacards.org]

  Recently reported cytogenetic abnormalities, such as a balanced reciprocal translocation between chromosome 1 and 9, trisomy 2, ring chromosome 20, and trisomy 21 are summarized in Table 211. [synapse.koreamed.org]

• Pallor

  Stage 1 is characterized by erythema, vesicles, and pustules; stage 2 by papules, verrucous lesions, and hyperkeratosis; stage 3 by hyperpigmentation; and stage 4 by pallor, atrophy, and scarring.4 The pigmentary disturbance, an autochthonous tattooing [angle.org]

• Nausea

  She had a history of recurrent episodes of left sided headache with nausea-about 5-6 such episodes per month over the past 1 year. [heraldopenaccess.us]

  These sorrel formulations may cause nausea or vomiting when taken with the prescription drugs metronidazole (Flagyl®) or disulfiram (Antabuse®). Avoid if pregnant or breastfeeding. [naturallivingcenter.net]

• Vomiting

  These sorrel formulations may cause nausea or vomiting when taken with the prescription drugs metronidazole (Flagyl®) or disulfiram (Antabuse®). Avoid if pregnant or breastfeeding. [naturallivingcenter.net]

• Malocclusion

  Her palate was high and arched, and she had dental malocclusion. Scoliosis of the spine was evident. [healio.com]

• Heterochromia Iridis

  Ocular abnormalities are common and include strabismus, aplasia / hypoplasia of the iris, and heterochromia iridis. Other less common associated findings include cleft lip and palate, anodontia, alopecia, scoliosis, and limb length discrepancy. [visualdx.com]

  Ocular anomalies associated with incontinentia pigmenti achromians reported in the neurologic and dermatologie literature include strabismus, epicanthal folds, microphthalmia, heterochromia iridis, dacryostenosis, corneal opacities, optic atrophy, ptosis [healio.com]

  Ophthalmic associations can be variable like strabismus, aplasia/hypoplasia of iris, heterochromia iridis, corneal opacity, hypertelorism, myopia, uveal coloboma or microphthalmos. [heraldopenaccess.us]

  Showing of 58 | 80%-99% of people have these symptoms Aplasia/Hypoplasia of the iris Absent/small iris Absent/underdeveloped iris [ more ] 0008053 Delayed cranial suture closure 0000270 Heterochromia iridis Different colored eyes 0001100 Hypopigmented [rarediseases.info.nih.gov]

• Hirsutism

  Other symptoms develop as the child grows, and may include: Crossed eyes (strabismus) Hearing problems Increased body hair ( hirsutism ) Scoliosis Seizures Streaked, whorled or mottled patches of skin on the arms, legs, and middle of the body Intellectual [nlm.nih.gov]

  Symptoms Return to top Streaked, whirled or mottled patchs of skin on the arms, legs, and middle of the body Varying degrees of retardation Seizures Crossed eyes (strabismus) Increased body hair ( hirsutism ) Scoliosis Exams and Tests Return to top A [oer2go.org]

  Symptoms Crossed eyes (strabismus) Hearing problems Increased body hair ( hirsutism ) Scoliosis Seizures Streaked, whirled or mottled patches of skin on the arms, legs, and middle of the body Varying degrees of intellectual disability incluiding autism [indiatoday.in]

  Symptoms Crossed eyes (strabismus) Hearing problems Increased body hair ( hirsutism ) Scoliosis Seizures Streaked, whirled or mottled patchs of skin on the arms, legs, and middle of the body Varying degrees of retardation Exams and Tests A Wood's lamp [sites.magellanhealth.com]

  Symptoms Crossed eyes (strabismus) Hearing problems Increased body hair ( hirsutism ) Scoliosis Seizures Streaked, whirled or mottled patchs of skin on the arms, legs, and middle of the body Varying degrees of intellectual disability incluiding autism [coordinatedhealth.com]

• Skin Disease

  It also discloses the method of applying the polypeptide for the treatment of various kinds of diseases, such as epithelium tumor, skin keratosis, vesicula, dermatosis of incontinentia pigmenti, and hereditary skin disease. [glosbe.com]

  Links Authors, ,, Source MeSH Abnormalities, Multiple Child, Preschool Eye Abnormalities Female Humans Infant Intellectual Disability Nevus, Pigmented Pigmentation Disorders Skin Diseases Skin Neoplasms Pub Type(s) Journal Article Language fre PubMed [unboundmedicine.com]

  On DermNet NZ: Skin pigmentation Birthmarks Other websites: Hypomelanosis of Ito – Medscape Reference HITS (UK) Family Support Network Books about skin diseases: See the DermNet NZ bookstore [dermnetnz.org]

  Discolored skin is caused by excessive deposits of melanin (normal skin pigment). Most newborns with IP will develop discolored skin within the first two weeks. [brainfacts.org]

• Hyperhidrosis

  This feature is in contrast to the usual presentation of incontinentia pigmenti. [9] Other skin manifestations include cafe-au-lait spots, cutis marmorata, angiomatous nevi, nevus of Ota, Mongolian blue spots, hyperhidrosis of hypopigmented areas, and [ijpd.in]

  This feature is in contrast to the usual presentation of incontinentia pigmenti.[9] Other skin manifestations include cafe-au-lait spots, cutis marmorata, angiomatous nevi, nevus of Ota, Mongolian blue spots, hyperhidrosis of hypopigmented areas, and [journals.lww.com]

• Skin Rash

  These types of disorders can affect the central nervous system, skin, eyes, teeth and skeletal system. With IP, gene mutations lead to progressive skin rashes and lesions, the most common feature of the condition. [my.clevelandclinic.org]

  Progressive skin rashes are the main clinical feature of the disease. There are four recognised clinical stages but their sequence is irregular, their duration variable and they may overlap. [dermnetnz.org]

  rash, stomach discomfort, stomach ulcers, and vomiting. [naturallivingcenter.net]

• Thick Lips

  Other of her symptoms--thick lips and myopia--have been reported earlier. The patient's mother, 15-year-old sister and 9-year-old brother showed, from birth, brown hyperpigmented maculae on the left halves of their bodies. [ncbi.nlm.nih.gov]

• Confusion

  The most commonly confused diagnosis is with incontinentia pigmenti, a rarer phakomatosis. Related articles: Phakomatoses Promoted articles (advertising) [radiopaedia.org]

  Indexing Annotation English : do not restrict to skin; do not confuse entry term INCONTINENTIA PIGMENTI ACHROMIANS with INCONTINENTIA PIGMENTI History Note English : SCHAMBERG'S DISEASE was see under PIGMENTATION DISORDERS 1965-85 Allowable Qualifiers [decs.bvs.br]

  The EEG can yield normal results or show a wide range of abnormalities. [12], [13] Any condition with skin manifestations along Blaschko's lines may be confused with hypomelanosis of Ito. [ijhas.in]

  1 Familial hypomelanosis of ito: implications for genetic counselling. 62 57 11074501 2000 2 Incontinentia pigmenti versus hypomelanosis of Ito: the whys and wherefores of a confusing issue. 62 57 Happle R 9738871 1998 3 Arteriovenous malformation in [malacards.org]

  However, the association of nervous system or musculoskeletal abnormalities with linear or patchy pigmentary skin anomalies is encountered in many clinical conditions other than HI.7 These are probably some of the causes that contributed to generating confusion [the-medical-dictionary.com]

• Generalized Tonic-Clonic Seizure

  An annual follow-up if CNS manifestations like infantile spasms, complex partial, myoclonic and generalized tonic-clonic seizures occur can be done and they often poorly respond to anti-epileptic therapies. [11] In children with fair skin, the use of [ijpd.in]

  An annual follow-up if CNS manifestations like infantile spasms, complex partial, myoclonic and generalized tonic-clonic seizures occur can be done and they often poorly respond to anti-epileptic therapies.[11] In children with fair skin, the use of woods [journals.lww.com]

  Generalized tonic-clonic seizures were most common (25%), whereas partial seizures were noted in 12% of patients, infantile spasms were reported in 8%, and myoclonic seizures were observed in 4%. [rareguru.com]

  Generalized tonic-clonic seizures were most common (25%), whereas partial seizures were noted in 12% of patients, infantile spasms were reported in 8%, and myoclonic seizures were observed in 4%. [3] Last updated: 9/17/2015 In many cases the cause of [rarediseases.info.nih.gov]

Your doctor may also recommend chromosome analysis or a further medical workup to discover any related medical problems. Treatment Return to top There is no treatment for the hypopigmentation. Treatment consists of treating the symptoms. [oer2go.org]

Yourdoctor may also recommend chromosome analysis or a further medical workup to discover any related medical problems. Treatment There is no treatment for the hypopigmentation. Treatment consists of treating the symptoms. [indiatoday.in]

Your doctor may also recommend chromosome analysis or a further medical workup to discover any related medical problems. Treatment There is no treatment for the hypopigmentation. Treatment consists of treating the symptoms. [sites.magellanhealth.com]

• Neurophysiologic Abnormalities

  MRI and electroencephalography are justified to characterize structural and neurophysiological abnormalities upon clinical manifestations. [10] Treatment for hypomelanosis of Ito is symptomatic. The skin lesions require no special treatment. [ijpd.in]

  MRI and electroencephalography are justified to characterize structural and neurophysiological abnormalities upon clinical manifestations.[10] Treatment for hypomelanosis of Ito is symptomatic. The skin lesions require no special treatment. [journals.lww.com]

[…] and prognosis There is no specific treatment; treatment is based on symptomatology. [radiopaedia.org]

Treatment / Management Treatment of hypomelanosis of Ito is symptom directed, targeting the specific clinical manifestations. Skin lesions do not require special treatment. Camouflage make-up may be employed for cosmetic concerns. [statpearls.com]

MRI and electroencephalography are justified to characterize structural and neurophysiological abnormalities upon clinical manifestations. [10] Treatment for hypomelanosis of Ito is symptomatic. The skin lesions require no special treatment. [ijpd.in]

Treatment Return to top There is no treatment for the hypopigmentation. Treatment consists of treating the symptoms. Cosmetics or clothing may be used to cover the hypopigmented spots if desired. [oer2go.org]

Treatment There is no treatment for the hypopigmentation. Treatment consists of treating the symptoms. Cosmetics or clothing may be used to cover the hypopigmented spots if desired. Seizures, scoliosis, and other problems are treated as necessary. [sites.magellanhealth.com]

Differential Diagnosis Systematized nevus depigmentosus The fourth stage of incontinentia pigmenti Piebaldism Teitz syndrome Waardenburg disease Segmental vitiligo Prognosis The cutaneous findings are of good prognosis. [statpearls.com]

Prognosis The prognosis is determined by the associated abnormalities. Cutaneous lesions have a good prognosis. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis The prognosis is determined by any associated abnormalities. The prognosis is excellent for the cutaneous findings. Death is rare. Morbidity depends on severity of the associated abnormalities, such as seizures. [emedicine.medscape.com]

[…] and palate bifid uvula nose and ear anomalies macrocephaly microcephaly hypodontia (small teeth) partial anodontia (lack of teeth) impacted dentition Musculoskeletal limb length discrepancy hemihypertrophy scoliosis thoracic deformities Treatment and prognosis [radiopaedia.org]

We believe that hypomelanosis of Ito is an etiologically heterogeneous physical finding, and recommend karyotyping of multiple tissues of all patients with abnormal cutaneous pigmentation associated with developmental delay or structural malformations [ncbi.nlm.nih.gov]

Etiology The etiology of hypomelanosis of Ito remains mysterious. The familial occurrence was described as suggesting an underlying chromosomal abnormality. [statpearls.com]

Etiology Various chromosomal anomalies have been identified in some patients and several authors have suggested that the phenotype recognized as HI is the result of cutaneous mosaicism, either for a monogenic or a chromosomal disorder, rather than being [orpha.net]

Etiology Chromosomal mosaicism and sporadic mutations are the causes of hypomelanosis of Ito. [emedicine.medscape.com]

Epidemiology Frequency Epidemiological studies in Catania, Italy have estimated a prevalence of 1 case per 7,540 births and 1 in 82,000 within the total population. [7] Race No clear racial predilection has been reported for hypomelanosis of Ito. [emedicine.medscape.com]

Summary Epidemiology Prevalence is unknown but incidence has been estimated at between 1/10,000 and 1/8,500. [orpha.net]

1965-85 Allowable Qualifiers English : BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications CN congenital DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology [decs.bvs.br]

Objectives: Review the pathophysiology of hypomelanosis of Ito. Describe the presentation of a patient with hypomelanosis of Ito. Summarize the differentials to consider for hypomelanosis of Ito. [statpearls.com]

Pathophysiology The affected areas seen in hypomelanosis of Ito result from postzygotic mutations in a variety of pigmentation-associated genes, resulting in a clone of skin cells with reduced capacity to produce pigment. [emedicine.medscape.com]

Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol. 2002 Aug;47(2):169-87; quiz 188-90. doi: 10.1067/mjd.2002.125949. Citation on PubMed Bruckner AL. [medlineplus.gov]

Prevention of Incontinentia Pigmenti Achromians or Hypomelanosis of Ito Incontinentia pigmenti achromians or Hypomelanosis of Ito cannot be prevented. [epainassist.com]

Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. [naturallivingcenter.net]

Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [icdlist.com]

[…] diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PS parasitology PA pathology PP physiopathology PC prevention [decs.bvs.br]