Genomes and Genes
Summary: A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.
- Huizing M, Helip Wooley A, Westbroek W, Gunay Aygun M, Gahl W. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet. 2008;9:359-86 pubmed publisher..We also summarize the function, composition, and resident cell types of the major LROs. Finally, we describe the clinical characteristics of the major human LRO disorders. ..
- Tuysuz B, Collin A, Arapoglu M, Suyugül N. Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus. Am J Med Genet A. 2009;149A:2290-5 pubmed publisher..However, findings related to WS4 were variable; Patient 1 had hypopigmentation of the irides and HSCR, Patient 2 had prominent bicolored irides and mild bilateral hearing loss, and Patient ..
- Eigelshoven S, Kameda G, Kortüm A, Hübsch S, Angerstein W, Singh P, et al. Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin. Pediatr Dermatol. 2009;26:759-61 pubmed publisher..We report a 3-year-old girl with autosomal dominant inherited Waardenburg syndrome type I showing circumscribed hypopigmentation of the skin, heterochromia iridis, sensorineural deafness, and dental aberrations...
- Ho M, Hsieh Y. Mixed hyperpigmentation and hypopigmentation of iris and choroid in Chediak-Higashi syndrome. J AAPOS. 2013;17:558-60 pubmed publisherAn 8-year-old Taiwanese girl presented with hyperpigmentation and scattered hypopigmentation in her irides and choroids. Her skin showed hyperpigmentation with speckled hypopigmentation over cheeks and sun-exposed areas...
- Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, et al. A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. Hum Mol Genet. 1999;8:1785-9 pubmedThe Yemenite deaf-blind hypopigmentation syndrome was first observed in a Yemenite sister and brother showing cutaneous hypopigmented and hyperpigmented spots and patches, microcornea, coloboma and severe hearing loss...
- Smith S, Kelley P, Kenyon J, Hoover D. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet. 2000;37:446-8 pubmedPatients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion...
- George W. Linear lymphatic hypopigmentation after intralesional corticosteroid injection: report of two cases. Cutis. 1999;64:61-4 pubmedPerilesional and linear hypopigmentation, extending cephalad along the lymphatics, occurred in one patient following intralesional injection of corticosteroid suspension for treatment of a hypertrophic scar, and in a second patient ..
- Wohrl S, Hemmer W, Focke M, Gotz M, Jarisch R. Hypopigmentation after non-permanent henna tattoo. J Eur Acad Dermatol Venereol. 2001;15:470-2 pubmedA young girl presented with a hypopigmentation in the shape of the sun. During a holiday in Egypt 3 months before a non-permanent henna tattoo had been applied on her right upper arm...
- Menasche G, Ho C, Sanal O, Feldmann J, Tezcan I, Ersoy F, et al. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest. 2003;112:450-6 pubmedGriscelli syndrome (GS) is a rare autosomal recessive disorder that associates hypopigmentation, characterized by a silver-gray sheen of the hair and the presence of large clusters of pigment in the hair shaft, and the occurrence of ..
- Huizing M, Anikster Y, Fitzpatrick D, Jeong A, D SOUZA M, Rausche M, et al. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet. 2001;69:1022-32 pubmed..These findings expand the molecular diagnosis of HPS, provide a screening method for a mutation common among Jews, and suggest that other patients with mild hypopigmentation and decreased vision should be examined for HPS.
- Preising M, Op de Laak J, Lorenz B. Deletion in the OA1 gene in a family with congenital X linked nystagmus. Br J Ophthalmol. 2001;85:1098-103 pubmed..because of typical clinical features: congenital nystagmus, iris translucency, macular hypoplasia, fundus hypopigmentation, normal pigmentation of skin and hair, and typical carrier signs of OA1 in his mother and maternal ..
- Feng L, Seymour A, Jiang S, To A, Peden A, Novak E, et al. The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. Hum Mol Genet. 1999;8:323-30 pubmedLysosomes, melanosomes and platelet-dense granules are abnormal in the mouse hypopigmentation mutant pearl...
- Brilliant M, King R, Francke U, Schuffenhauer S, Meitinger T, Gardner J, et al. The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2. Pigment Cell Res. 1994;7:398-402 pubmedMutations at the mouse pink-eyed dilution locus, p, cause hypopigmentation. We have cloned the mouse p gene cDNA and the cDNA of its human counterpart, P...
- Pastural E, Ersoy F, Yalman N, Wulffraat N, Grillo E, Ozkinay F, et al. Two genes are responsible for Griscelli syndrome at the same 15q21 locus. Genomics. 2000;63:299-306 pubmed..However, fine haplotype analysis in three families strongly suggests the existence of a second gene at the same locus for Griscelli syndrome less than 7.3 cM distant from the MyoVa gene. ..
- Nguyen T, Wei M. Characterization of melanosomes in murine Hermansky-Pudlak syndrome: mechanisms of hypopigmentation. J Invest Dermatol. 2004;122:452-60 pubmed..We document three cellular mechanisms contributing to the hypopigmentation seen in the Hermansky-Pudlak syndrome: (1) exocytosis of immature hypopigmented melanosomes from melanocytes ..
- Ahmed A, Samaila E, Abah E, Oladigbolu K, Merali H, Abubakar A. Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/ blind in Kaduna-Nigeria. Niger J Med. 2010;19:382-5 pubmed..Waardenburg's syndrome is a rare disorder in our environment although it may be under reported. Two of the subjects benefited from amplification and were given hearing Aids. Provision of early amplification cannot be over emphasized. ..
- Brandt M, Moore C, Conlin A, Stein J, Doyle P. A pilot randomized control trial of scar repigmentation with UV light and dry tattooing. Otolaryngol Head Neck Surg. 2008;139:769-74 pubmed publisher..Observer and patient subjective global ratings support the use of dry tattooing. Dry-tattooing followed by UV light exposure may provide a safe and effective means for the treatment of hypopigmented scars. ..
- Tugal Tutkun I, Urgancioglu M. Bilateral acute depigmentation of the iris. Graefes Arch Clin Exp Ophthalmol. 2006;244:742-6 pubmed..The patients described here could represent a new entity or an unusual presentation of herpetic eye disease. ..
- Monroe J. The patient who feared she had "Michael Jackson's disease". JAAPA. 2006;19:62 pubmed
- Rerknimitr P, Disphanurat W, Achariyakul M. Topical tacrolimus significantly promotes repigmentation in idiopathic guttate hypomelanosis: a double-blind, randomized, placebo-controlled study. J Eur Acad Dermatol Venereol. 2013;27:460-4 pubmed publisher..Topical 0.1% tacrolimus ointment appeared to be an effective and safe treatment for IGH. The improvements were best observed by colorimetry, yet, they were not statistically significant upon clinical assessments. ..
- Attia S, Zaouali S, Bettaieb A, Yahia S, Khairallah M. Peripheral iris depigmentation and ocular hypotony: result of the natural course of non-treated Vogt-Koyanagi-Harada (VKH) disease. Int Ophthalmol. 2007;27:221-2 pubmed
- González Enseñat M, Vicente A, Poo P, Català V, Mar Pérez Iribarne M, Fuster C, et al. Phylloid hypomelanosis and mosaic partial trisomy 13: two cases that provide further evidence of a distinct clinicogenetic entity. Arch Dermatol. 2009;145:576-8 pubmed publisherPhylloid hypomelanosis is a rare neurocutaneous syndrome characterized by a pattern of hypopigmentation consisting of leaflike or oblong macules reminiscent of floral ornaments...
- Sharma A, Vora A, Bhutani M. Generalized hypopigmentation due to imatinib: a fairness boon?. Indian J Dermatol Venereol Leprol. 2005;71:45-6 pubmed
- Shahzad M, Sires Campos J, Tariq N, Herraiz Serrano C, Yousaf R, JimÃ©nez Cervantes C, et al. Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population. Pigment Cell Melanoma Res. 2015;28:730-5 pubmed publisher..We used whole-exome sequencing to identify causative alleles in Pakistani families with skin and hair hypopigmentation. Six MC1R mutations segregated with the phenotype in seven families, including a p...
- Kim Y, Lee H, Son S, Kim S, Kye Y. Analysis of hyperpigmentation and hypopigmentation after Er:YAG laser skin resurfacing. Lasers Surg Med. 2005;36:47-51 pubmedPigmentary disorders--such as hyperpigmentation and hypopigmentation, are devastating complications of erbium:yttrium-aluminum-garnet (Er:YAG) laser resurfacing...
- Cortese K, Giordano F, Surace E, Venturi C, Ballabio A, Tacchetti C, et al. The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. Invest Ophthalmol Vis Sci. 2005;46:4358-64 pubmed..e., Tyrosinase and membrane-associated transporter protein [Matp]) to study the function of Oa1, the gene mutated in ocular albinism type 1, in the RPE during development and after birth...
- Wei A, Yuan Y, Bai D, Ma J, Hao Z, Zhang Y, et al. NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. Pigment Cell Melanoma Res. 2016;29:702-706 pubmed publisherHermansky-Pudlak syndrome (HPS) is a rare recessive disorder characterized by hypopigmentation, bleeding diathesis, and other symptoms due to multiple defects in lysosome-related organelles...
- Sartorelli A, Leite F, Friedman I, Friedman H. [Vitiligoid hypopigmented macules and tumor of the follicular infundibulum]. An Bras Dermatol. 2009;84:68-70 pubmed..The different clinical forms share the same histopathologic aspect. The present report describes a case of the multiple variant of tumor of the follicular infundibulum disclosing facial vitiligoid macules in a 35-year-old male patient. ..
- Wongpraparut C, Setabutra P. Phototherapy for hypopigmented mycosis fungoides in Asians. Photodermatol Photoimmunol Photomed. 2012;28:181-6 pubmed publisher..PUVA and NBUVB are effective for hypopigmented MF. Comparing between these two methods, PUVA provided a better response than NBUVB. Although the disease responded well to phototherapy, relapse was common. ..
- ..Initial screening of renal function has also been recommended. Awareness of this disorder will allow for diagnosis, genetic counseling and appropriate screening. ..
- Aggarwal V, Seth A, Jain M, Krishnamurthy S, Chandra V, Aneja S. Congenital Langerhans cell histiocytosis with skin and lung involvement: spontaneous regression. Indian J Pediatr. 2010;77:811-2 pubmed publisher..Skin biopsy showed a dermal infiltrate of pleomorphic histiocytes; which were CD1a and S-100 positive, consistent with the diagnosis of CSHLCH. Both pulmonary and cutaneous lesions showed spontaneous resolution. ..
- Wu X, Xu A, Song X, Zheng J, Wang P, Shen H. Clinical, pathologic, and ultrastructural studies of progressive macular hypomelanosis. Int J Dermatol. 2010;49:1127-32 pubmed..As a result of the above findings, we discussed and summarized the PMH's clinical diagnostic criteria. ..
- Morigaki R, Pooh K, Shouno K, Taniguchi H, Endo S, Nakagawa Y. Choroid plexus papilloma in a girl with hypomelanosis of Ito. J Neurosurg Pediatr. 2012;10:182-5 pubmed publisher..The case reported here serves as a reminder that de novo brain tumors may arise in patients with chromosomal mosaicism. ..
- Hon K, Chow C, Li A, Leung A. A large hypopigmented skin lesion following extravasation of intravenous fluid. Adv Ther. 2007;24:983-6 pubmed..This article serves to alert the physician to consider the extravasation of intravenous fluid as a potential cause of acute development of skin hypopigmentation in an at-risk patient.
- Davoodi P, Fernandez J, O S. Postburn sequelae in the pediatric patient: clinical presentations and treatment options. J Craniofac Surg. 2008;19:1047-52 pubmed publisher..One must also use a multidisciplinary team approach to help reintegrate the patient back into their environment. ..
- de Oliveira Sobrinho R, Steiner C. What syndrome is this? Oculocerebral hypopigmentation syndrome of preus. Pediatr Dermatol. 2007;24:313-5 pubmed
- Bouzari N, Tabatabai H, Abbasi Z, Firooz A, Dowlati Y. Hair removal using an 800-nm diode laser: comparison at different treatment intervals of 45, 60, and 90 days. Int J Dermatol. 2005;44:50-3 pubmed..Hair counting was also performed. The adverse effects (pain, blister or erosion, hyperpigmentation, hypopigmentation, and folliculitis) were questioned during the follow-up period. The mean hair reduction was 78.1%, 45...
- Kamińska E, Larson R, Petronic Rosic V. Amelanocytic anhidrotic alopecia areata-like phenotype after allogeneic hematopoietic cell transplant. Arch Dermatol. 2012;148:931-4 pubmed publisher..Destruction results in irreversible pigmentary loss of the skin. In a patient with multiple risk factors for anhidrosis, a specific cause may be difficult to determine. ..
- Talwar V, Doval D, Bhatia K. Imatinib mesylate induced skin hypopigmentation. J Assoc Physicians India. 2007;55:527 pubmed
- Suchter M, Khan M, Milgraum S. Linear nevoid hypertrichosis without underlying hypopigmentation or extracutaneous abnormalities. Pediatr Dermatol. 2008;25:120-2 pubmed publisher..with a linear patch of excessive hair growth involving her left posterolateral leg without any underlying hypopigmentation or associated abnormalities...
- Brown T, Zirvi M, Cotsarelis G, Gelfand J. Vitiligo-like hypopigmentation associated with imiquimod treatment of genital warts. J Am Acad Dermatol. 2005;52:715-6 pubmed
- Ansari N, Ramesh V, Salotra P. Immune response following miltefosine therapy in a patient with post-kala-azar dermal leishmaniasis. Trans R Soc Trop Med Hyg. 2008;102:1160-2 pubmed publisher..A significant increase in IFNgamma and CD40 levels seen after miltefosine therapy could enhance parasite clearance. The patient remained normal after 18 months of follow-up. ..
- Alexis A. Lasers and light-based therapies in ethnic skin: treatment options and recommendations for Fitzpatrick skin types V and VI. Br J Dermatol. 2013;169 Suppl 3:91-7 pubmed publisher..This article will review laser and light-based modalities that are considered safe and effective for individuals with richly pigmented skin. ..
- Ward P, Baker S. Long-term results of carbon dioxide laser resurfacing of the face. Arch Facial Plast Surg. 2008;10:238-43; discussion 244-5 pubmed publisher..With the exception of 1 case of hyperpigmentation, which resolved within 2 years of treatment, hypopigmentation was the only long-term adverse effect. This complication was present in 6 patients (13%)...
- Botero J, Chen D, Majerus J, Coon L, He R, Warad D, et al. Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype. Platelets. 2017;:1-4 pubmed publisher..His mild oculocutaneous hypopigmentation was subtle...
- Girisha K, Ganesh H, Rao L, Srilatha P. Massive cranial osteolysis, skin changes, growth retardation and developmental delay: Gorham syndrome with systemic manifestations?. Am J Med Genet A. 2010;152A:759-63 pubmed publisher..on her skull due to massive osteolysis, growth retardation, facial anomalies, and wrinkly skin with mosaic hypopigmentation. She also had severe hypercalcemia, which gradually returned to normal levels...
- Hasegawa J, Goto Y, Murata H, Takata M, Saida T, Imokawa G. Downregulated melanogenic paracrine cytokine linkages in hypopigmented palmoplantar skin. Pigment Cell Melanoma Res. 2008;21:687-99 pubmed..These findings suggest the possibility that downregulation of ET-1/SCF/receptor linkages is also associated with the decreased function of melanocytes in PP skin. ..
- Hemmati I, Lam J. Hyper- and hypopigmented macules over palms and soles since birth--a case of dyschromatosis symmetrica hereditaria. Dermatol Online J. 2009;15:5 pubmed..We report a case of a 4-year-old girl with DSH and review the pertinent features of this genodermatosis. ..
- Takagi R, Kawano M, Nakamura K, Tsuchida T, Matsushita S. T-Cell Responses to Tyrosinase-Derived Self-Peptides in Patients with Leukoderma Induced by Rhododendrol: Implications for Immunotherapy Targeting Melanoma. Dermatology. 2016;232:44-9 pubmed publisher..Rhododendrol-induced leukoderma is an autoimmune disorder, with rhododendrol as an environmental factor and HLA-DR4 as a genetic factor. Rhododendrol might be effective in treating melanomas. ..