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]

• Developmental Delay

  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]

  Neurological findings can be observed in patients with hypomelanosis of Ito including treatment-resistant seizures that develop in infancy, psychomotor developmental delays, and some cases of severe neurologic impairment with hemimegalencephaly. [visualdx.com]

  March 19, 2013; 80 (12) Resident and Fellow Section First published March 18, 2013, DOI: https://doi.org/10.1212/WNL.0b013e318288697b A 2-year-old girl presented with developmental delay. [n.neurology.org]

  Other associated features of the condition include developmental delay, deafness, musculoskeletal defects, heart abnormalities, kidney problems, and abnormalities of the eyes and teeth. [aocd.org]

  Streaky pattern of hypopigmentation of the leg in a girl with developmental delay. Related Content Figure 2. Small chromosome marker found in only 2% of cultured fibroblasts. Figure 3. [dermatologyadvisor.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]

  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]

  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]

• Infertility

  Presentation is variable, and behavioral problems and seizures are common.1 Fifty percent have an IQ <80.2 Males are often infertile.2 X-chromosomal abnormalities, primarily mosaicism, have been reported.2 Neuroimaging occasionally shows abnormalities [n.neurology.org]

• 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]

• Skin Lesion

  The skin lesions require no special treatment. The hypopigmented lesions tend to darken with time for individuals without additional neurological manifestations. [ijpd.in]

  The skin lesions are characteristic of hypomelanosis of Ito. [n.neurology.org]

  As a neurocutaneous disease, the skin lesions are remarkable and are present in the first year of life in ~70% of patients. [radiopaedia.org]

  The authors describe a child who presented multiple congenital malformations affecting the cranio-facial region and the extremities associated with a rare skin lesion (incontinentia pigmenti achromians). [ncbi.nlm.nih.gov]

  […] spectrum and learning disability Mouth or tooth problems Exams and Tests A Wood's lamp examination of the skin lesions may help confirm the diagnosis. [stlukes-stl.com]

• Alopecia

  Changes in hair color, diffuse alopecia and hair with trichorrhexis nodosa are reported as scalp manifestations of this disease. [radiopaedia.org]

  […] specific entity but rather represents features of many different forms of mosaicism; characterized by unilateral or bilateral hypopigmented macules in whorls, streaks, and patches in a "marble-cake" pattern, variably associated with epidermal nevi, alopecia [medical-dictionary.thefreedictionary.com]

  Found on http://en.wikipedia.org/wiki/Incontinentia_pigmenti_achromians incontinentia pigmenti achromians Inherited hypopigmented macules in a 'marble-cake' pattern, variably associated with epidermal nevi, alopecia, and ocular, skeletal, and neural abnormalities [encyclo.co.uk]

• 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]

  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 [mountsinai.org]

• Skin Patch

  "whorls" of hypopigmented skin patches. [visualdx.com]

• Sweating

  International Classification of Diseases, Tenth Revision, Clinical Modification.Q82.3 Incontinentia pigmenti and Incontinentia pigmenti achromians syndrome Q82.4 Ectodermal syndrome with hair-sweating defects (disorder) [averbis.com]

  Abnormalities of sweat glands and nails have also been reported. [pigmentinternational.com]

  There may be a diminished number of sweat glands. Teeth Between 50 to 75 percent of individuals with IP have dental abnormalities. [rarediseases.org]

  These areas are a result of local inflammation of the sweat glands. [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]

• Irritability

  Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance. [icdlist.com]

  Use cautiously with gastrointestinal irritation or peptic ulcer disease due to anecdotal reports of gastrointestinal irritation. [naturallivingcenter.net]

  Dealing with dens in dente is challenging in clinic as it may cause pulp necrosis or periapical lesions due to the communication with the oral cavity and influx of the irritants to the pulp [11]. [file.scirp.org]

• Behavior Problem

  Presentation is variable, and behavioral problems and seizures are common.1 Fifty percent have an IQ <80.2 Males are often infertile.2 X-chromosomal abnormalities, primarily mosaicism, have been reported.2 Neuroimaging occasionally shows abnormalities [n.neurology.org]

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]

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

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]

Management and treatment Treatment of the cutaneous lesions is not required. Care should be multidisciplinary with periodic consultations with a pediatric ophthalmologist, neurologist and orthopedic specialist, depending of the associated anomalies. [orpha.net]

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

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

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 EH ethnology ET etiology [decs.bvs.br]

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]

Epidemiology of Incontinentia Pigmenti Achromians or Hypomelanosis of Ito Incontinentia pigmenti achromians or Hypomelanosis of Ito is a rare genetic syndrome; hence, there is limited epidemiological data available. [epainassist.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]

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]

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]

How can this disease be prevented? Women with IP should be advised to have genetic counseling if they are considering pregnancy. There is no other specific prevention strategy. What is the evidence? Tanaka, K, Kambe, N, Fujita, M. [cancertherapyadvisor.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]