Hypomelanosis of Ito
No Results
No Results
processing….
Hypomelanosis of Ito is a pigmentary mosaicism characterized by a clone of skin cells with decreased ability to produce pigment. The clinical pattern is characterized by hypopigmented streaks and whorls running along the lines of Blaschko, characteristically involving more than two body segments. Around one fifth of patients have a patchy presentation without a specific distribution pattern. [1] Various terms have been used to describe this mosaicism, including Blaschkoid dyspigmentation, pigmentary mosaicism of the hypopigmented type, and incontinentia pigmenti achromians. [2]
Ruiz-Maldonado et al established criteria for hypomelanosis of Ito that include nervous system or musculoskeletal anomalies [1] ; however, the strength of these associations has been questioned in other studies. [2] Currently, hypomelanosis of Ito is considered an umbrella term. Some cases may present with isolated cutaneous findings, while a portion have associated systemic anomalies, most commonly of the nervous system. [3] Larger studies are required to provide further evidence to support possible associations with different anomalies.
See the image below.
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. Structural or numerical chromosomal aberrations present in these clones of cells have been linked with this entity. Around 90% of these chromosomal aberrations are present in the locations of genes involved in pigmentation. [4] Associations of different numerical chromosomal disorders can be found in the literature, such as trisomy of chromosome 2, 13,14, 18, or 20 mosaicisms. [5, 6]
Extracutaneous manifestations might be due to the presence of different genetic defects.
Chromosomal mosaicism and sporadic mutations are the causes of hypomelanosis of Ito.
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]
No clear racial predilection has been reported for hypomelanosis of Ito.
Hypomelanosis of Ito is 0.7-2.5 times more common in women than in men. [8]
Hypomelanosis of Ito is present at birth, and patients usually undergo examination in their first or second year of life. Approximately 75% of patients with hypomelanosis of Ito seek care by the time they are aged 2 years. One fourth of patients seek care between ages 2 and 5 years. Skin lesions may become more pigmented over time and blend well with normally pigmented skin.
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.
Genetic counseling may be recommended. However, the risk of hypomelanosis of Ito transmission is considered low, except when X-linked mutations are present in female patients.
Ruiz-Maldonado R, Toussaint S, Tamayo L, Laterza A, del Castillo V. Hypomelanosis of Ito: diagnostic criteria and report of 41 cases. Pediatr Dermatol. 1992 Mar. 9 (1):1-10. [Medline].
Cohen J 3rd, Shahrokh K, Cohen B. Analysis of 36 cases of Blaschkoid dyspigmentation: reading between the lines of Blaschko. Pediatr Dermatol. 2014 Jul-Aug. 31 (4):471-6. [Medline].
Pavone V, Signorelli SS, Praticò AD, Corsello G, Savasta S, Falsaperla R, et al. Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports. Medicine (Baltimore). 2016 Mar. 95 (10):e2705. [Medline].
Molho-Pessach V, Schaffer JV. Blaschko lines and other patterns of cutaneous mosaicism. Clin Dermatol. 2011 Mar-Apr. 29:205-225. [Medline].
Ponti G, Pellacani G, Tomasi A, Percesepe A, Guarneri C, Guerra A, et al. Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report. J Med Case Rep. 2014 Oct. 9:333. [Medline].
Girard C, Guillot B, Rivier F, Dalla Vale F, Bessis D. Trisomy 20 mosaicism revealed by pigmentary mosaicism of the Ito-type. Ann Dermatol Venereol. 2005 Feb. 132:151-3. [Medline].
Ruggieri M, Pavone L. Hypomelanosis of Ito: clinical syndrome or just phenotype?. J Child Neurol. 2000 Oct. 15 (10):635-44. [Medline].
Ream M. Hypomelanosis of Ito. Handb Clin Neurol. 2015. 132:281-9. [Medline].
Assogba K, Ferlazzo E, Striano P, Calarese T, Villeneuve N, Ivanov I, et al. Heterogeneous seizure manifestations in Hypomelanosis of Ito: report of four new cases and review of the literature. Neurol Sci. 2010 Feb. 31(1):9-16. [Medline].
Scott A, Micallef C, Hale SL, Watts P. Cortical visual impairment in hypomelanosis of Ito. J Pediatr Ophthalmol Strabismus. 2008 Jul-Aug. 45(4):240-1. [Medline].
Iype M, Iype T, Geetha S, Retnakumar J. Hypomelanosis of Ito with cerebral malformation. Indian J Pediatr. 2007 Nov. 74(11):1044-5. [Medline].
Vergine G, Mencarelli F, Diomedi-Camassei F, et al. Glomerulocystic kidney disease in hypomelanosis of Ito. Pediatr Nephrol. 2008 Jul. 23(7):1183-7. [Medline].
Calonje E, Brenn T, Lazar AJ, McKee PH. Disorders of Pigmentation. Elsevier/Saunders. McKee’s Pathology of the Skin: With Clinical Correlations. 4th ed. Philadelphia, Pa: Elsevier Saunders; 2011. 912.
Devillers C, Quatresooz P, Hermanns-Lê T, Szepetiuk G, Lemaire R, Piérard-Franchimont C, et al. Hypomelanosis of Ito: pigmentary mosaicism with immature melanosome in keratinocytes. Int J Dermatol. 2011 Oct. 50 (10):1234-9. [Medline].
Manuel Valdebran, MD Junior Specialist Physician, Visiting Scholar in Dermatology/Dermatopathology, Department of Dermatology, University of California, Irvine, School of Medicine
Manuel Valdebran, MD is a member of the following medical societies: International Dermoscopy Society, Medical Dermatology Society, Society for Pediatric Dermatology
Disclosure: Nothing to disclose.
Teresa S Wright, MD, FAAD, FAAP Associate Professor of Dermatology and Pediatrics, University of Tennessee Health Science Center College of Medicine; Division Chief of Pediatric Dermatology, LeBonheur Children’s Hospital
Teresa S Wright, MD, FAAD, FAAP is a member of the following medical societies: American Academy of Dermatology, American Academy of Pediatrics, Association of Professors of Dermatology, Memphis Dermatology Society, Pediatric Dermatology Research Alliance, Society for Pediatric Dermatology
Disclosure: Nothing to disclose.
Michael J Wells, MD, FAAD Dermatologic/Mohs Surgeon, The Surgery Center at Plano Dermatology
Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association
Disclosure: Nothing to disclose.
Christen M Mowad, MD Professor, Department of Dermatology, Geisinger Medical Center
Christen M Mowad, MD is a member of the following medical societies: Alpha Omega Alpha, Noah Worcester Dermatological Society, Pennsylvania Academy of Dermatology, American Academy of Dermatology, Phi Beta Kappa
Disclosure: Nothing to disclose.
Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.
John Louis Ratz, MD, MBA Private Practice Dermatologist, Mohs Surgeon, Tampa, Florida
John Louis Ratz, MD, MBA is a member of the following medical societies: American Academy of Dermatology, American College of Mohs Surgery, American College of Physicians, American Society for Dermatologic Surgery, American Society for Laser Medicine and Surgery, International Society for Dermatologic Surgery, Southern Medical Association
Disclosure: Nothing to disclose.
Sungnack Lee, MD Vice President of Medical Affairs, Professor, Department of Dermatology, Ajou University School of Medicine, Korea
Sungnack Lee, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.
Hypomelanosis of Ito
Research & References of Hypomelanosis of Ito|A&C Accounting And Tax Services
Source
0 Comments