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Incontinentia Pigmenti Achromians

Hypomelanosis of Ito


Presentation

  • Structural or numerical chromosomal aberrations present in these clones of cells have been linked with this entity.[emedicine.medscape.com]
  • In this context, the results of a chromosome analysis in both mother and daughter are presented.[ncbi.nlm.nih.gov]
  • Clinical description HI is causally heterogeneous and, with the exception of the pigmentary skin anomalies that are by definition mandatory for recognition of the condition, the phenotypic presentation is very variable.[orpha.net]
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. 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]
  • Nail abnormalities such as ridging and pitting has been reported in approximately one fourth of cases.[cancertherapyadvisor.com]
Pathologist
  • Research Council Catania, Italy GAETANO MAGRO, MD, PhD Institute of Anatomic Pathology University of Catania Catania, Italy MARTINO RUGGIERI AGATA POLIZZI, MD, PhD Department of Paediatrics University of Catania Catania, Italy Copyright College of American Pathologists[the-medical-dictionary.com]
Saddle Nose
  • She displayed other abnormalities such as a saddle nose, malformed auricles, growth retardation, convulsions and abnormal EEG.[ncbi.nlm.nih.gov]
Malocclusion
  • Her palate was high and arched, and she had dental malocclusion. Scoliosis of the spine was evident.[healio.com]
Antimongoloid Slant
  • slant of the palpebral fissures and more anomalies of the skeletal system, cryptorchidism and micropenis.[kundoc.com]
Hearing Problem
  • 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 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 Signs and tests A Wood's lamp[broadviewheightsfamilymedicine.com]
  • 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[nicklauschildrens.org]
Genu Valgum
  • Musculoskeletal anomalies included cleft lip or palate, scoliosis, genu valgum, clinodactyly, asymmetry of the head, and limb length discrepancy, as were seen in our patient.[healio.com]
  • Musculoskeletal anomalies such as hemihypertrophy, scoliosis, and genu valgum [9] have been associated with HI; however, these were absent in the index case.[mjdrdypu.org]
Skeletal Dysplasia
  • The daughters showed clinical and histopathological cutaneous changes typical of HMI, marked psychomotor retardation, strabismus, hypodontia and skeletal dysplasia. The mother had only non-specific hypopigmented areas.[jmedicalcasereports.biomedcentral.com]
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 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 Signs and tests A Wood's lamp[broadviewheightsfamilymedicine.com]
  • 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[nicklauschildrens.org]
  • 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]
Cutaneous Manifestation
  • Cutaneous manifestation of lethal genes. Hum Genet. 1986 Mar; 72 (3):280–280. [ PubMed ] [ Google Scholar ] Jeffreys AJ, Wilson V, Thein SL. Hypervariable 'minisatellite' regions in human DNA.[ncbi.nlm.nih.gov]
  • However, there may be isolated cutaneous manifestation, resulting in diagnostic overlap with other hypopigmentary lesions such as nevus depigmentosus and hypopigmentation along the lines of Blaschko.[mjdrdypu.org]
  • These extra-cutaneous manifestations probably do not reflect the variability of one single disorder, but can be due to the presence of different genetic defects.[jmedicalcasereports.biomedcentral.com]
  • Minor cutaneous manifestations include café-au-lait spots, morphea, ichthyosis nevus of Ota, Mongolian blue spots, soft fibroma, pilomatrixoma, and atopic dermatitis. [5] Extracutaneous findings are found in 75 % of cases.[statpearls.com]
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]

Workup

  • 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.[broadviewheightsfamilymedicine.com]
  • 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.[nicklauschildrens.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]

Treatment

  • 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]
  • 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]
  • Treatment There is no treatment for the skin patches. Cosmetics or clothing may be used to cover the patches. Seizures, scoliosis, and other problems are treated as needed.[stlukes-stl.com]
  • There is no treatment for the skin patches.[mynmhc.adam.com]

Prognosis

  • 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]
  • 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]

Etiology

  • 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 Chromosomal mosaicism and sporadic mutations are the causes of hypomelanosis of Ito.[emedicine.medscape.com]
  • Etiology The etiology of hypomelanosis of Ito remains mysterious. The familial occurrence was described as suggesting an underlying chromosomal abnormality.[statpearls.com]

Epidemiology

  • 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]
  • Chromosomal mosaicism and chromosomal translocations were reported. [2] Epidemiology HI is an uncommon congenital condition. Its prevalence is unknown. The prevalence estimated in Catania, Italy is about 1 case per 7540 births.[statpearls.com]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • Pathophysiology HI is related to pigmentary mosaicism. The different pigmented skin areas correspond to the distribution of the two different cell lines with different pigment potential in single individuals.[statpearls.com]
  • MARTINO RUGGIERI, MD, PhD Institute of Bioimaging and Pathophysiology of the Central Nervous System National Research Council Catania, Italy GAETANO MAGRO, MD, PhD Institute of Anatomic Pathology University of Catania Catania, Italy MARTINO RUGGIERI AGATA[the-medical-dictionary.com]
  • Pathophysiology The extent of the skin lesions and severity of the systemic manifestations depends on the proportion of cells carrying the genetic change vs normal cells, and their distribution.[dermatologyadvisor.com]

Prevention

  • Prevention References Genodermatoses and Congenital Anomalies. In: James WD, Berger TG, Elston DM, eds. Andrews' Diseases of the Skin: Clinical Dermatology. 101th ed. Philadelphia, Pa: Saunders Elsevier; 2011: chap 27. Moss C.[broadviewheightsfamilymedicine.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]
  • […] 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]
  • 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]

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