Genomes and Genes
Summary: Diseases affecting PIGMENTATION, including SKIN PIGMENTATION.
- Plensdorf S, Martinez J. Common pigmentation disorders. Am Fam Physician. 2009;79:109-16 pubmed..Patients with extensive disease may be candidates for depigmentation therapy. Other acquired disorders may improve or resolve with treatment of the underlying condition. ..
- Reddy S, Worobec S. Dyschromatosis universalis hereditaria in an African American male. Dermatol Online J. 2011;17:3 pubmed..We report a case of a 44-year-old man born and raised in North America who presented with total skin discoloration since birth. ..
- Guo X, Liu Z, Huang C, You L. Levels of arsenic in drinking-water and cutaneous lesions in Inner Mongolia. J Health Popul Nutr. 2006;24:214-20 pubmed..Further studies are needed to confirm that cutaneous lesions and other adverse health effects occur at low levels of arsenic exposure. ..
- Lipsker D, Flory E, Wiesel M, Hanau D, de la Salle H. Between light and dark, the chimera comes out. Arch Dermatol. 2008;144:327-30 pubmed publisher..He also had immune chimerism, which challenges our current comprehension of antigen presentation and tolerance. ..
- Wilkes D, McDermott D, Basson C. Clinical phenotypes and molecular genetic mechanisms of Carney complex. Lancet Oncol. 2005;6:501-8 pubmed
- Menasche G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet. 2000;25:173-6 pubmed..RAB27A appears to be a key effector of cytotoxic granule exocytosis, a pathway essential for immune homeostasis. ..
- Morales Callaghan A, Vila J, Fraile H, Romero A, Garcia G. Amyloidosis cutis dyschromica in a patient with generalized morphoea. Br J Dermatol. 2004;150:616-7 pubmed
- Xing Q, Wang M, Chen X, Feng G, Ji H, Yang J, et al. A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2. Am J Hum Genet. 2003;73:377-82 pubmed..Further work on identification of the gene for DSH will open new avenues to exploration of the genetics of pigmentation. ..
- Matesic L, Yip R, Reuss A, Swing D, O Sullivan T, Fletcher C, et al. Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice. Proc Natl Acad Sci U S A. 2001;98:10238-43 pubmed..Collectively, our data show that Mlph is a critical component of the melanosome transport machinery and suggest that Mlph might function as part of a transport complex with Rab27a and MyoVa. ..
- Sethuraman G, Srinivas C, D SOUZA M, Thappa D, Smiles L. Dyschromatosis universalis hereditaria. Clin Exp Dermatol. 2002;27:477-9 pubmed..Although the precise aetiology of this disorder is not yet known, the clinicopathological findings implicate an inherent abnormality of melanosomes or melanin processing. ..
- Haas N, Henz B. Pitfall in pigmentation: pseudopods in the nail plate. Dermatol Surg. 2002;28:966-7 pubmed..Pseudopods of the nail resulted from erythrocytes entrapped between the layers of the nail plate. Pseudopod formation of the nail may represent a diagnostic criterion to distinguish hemorrhage and melanoma of the nail apparatus. ..
- Bukhari I, El Harith E, Stuhrmann M. Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family. J Eur Acad Dermatol Venereol. 2006;20:628-9 pubmed
- Pardo Arranz L, Escalonilla García Patos P, Román Curto C, Blanco Barrios S, Fernández López E, de Unamuno Pérez P. Familial poikylodermic cutaneous amyloidosis. Eur J Dermatol. 2008;18:289-91 pubmed publisher..The possible relationship between multiple endocrine neoplasia type 2A (MEN-2A) and familial cutaneous amyloidosis is discussed. ..
- Braun R, Baran R, Saurat J, Thomas L. Surgical Pearl: Dermoscopy of the free edge of the nail to determine the level of nail plate pigmentation and the location of its probable origin in the proximal or distal nail matrix. J Am Acad Dermatol. 2006;55:512-3 pubmed
- Lin D, Volpicelli M, Singh K. Dense pigmentation of the posterior lens capsule associated with the pigment dispersion syndrome. J Glaucoma. 2003;12:491-3 pubmed..Such a finding suggests that there may be aqueous flow into the retrolental space in some patients with this condition. The optimal treatment of this unusual condition remains undetermined. ..
- Nuber U, Tinschert S, Mundlos S, Hauber I. Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation. Am J Med Genet A. 2004;125A:261-6 pubmed..Our findings indicate that DUH is not a disorder of number. It appears to be a disorder of melanosome synthesis rate or in addition melanocyte activity. ..
- DiBernardo B, Pozner J. Intense Pulsed Light Therapy for Skin Rejuvenation. Clin Plast Surg. 2016;43:535-40 pubmed publisher..These devices are extremely popular because of their versatility and are often the first devices recommended and purchased in many offices. ..
- Nesterov A, Zhao J, Minter D, Hertel C, Ma W, Abeysinghe P, et al. 1-(2,4-dihydroxyphenyl)-3-(2,4-dimethoxy-3-methylphenyl)propane, a novel tyrosinase inhibitor with strong depigmenting effects. Chem Pharm Bull (Tokyo). 2008;56:1292-6 pubmed..In conclusion, UP302 is a novel tyrosinase inhibitor that suppresses melanin production in both cultured melanocytes and reconstructed skin with high potency and without adverse side effects...
- Kawasaki G, Yoshitomi I, Yanamoto S, Yamada S, Mizuno A, Umeda M. Pigmentation of the oral mucosa by PCB poisoning in Yusho patients. Arch Oral Biol. 2013;58:1260-4 pubmed publisher..These results indicated that PCB-related compounds may be responsible for the higher prevalence of oral pigmentation in Yusho victims, even though a long time has passed since the Yusho poisoning accident. ..
- Karimipour D, Karimipour G, Orringer J. Microdermabrasion: an evidence-based review. Plast Reconstr Surg. 2010;125:372-7 pubmed publisher..It may also be beneficial in improving transepidermal delivery of certain medications. Its role in the treatment of dyschromias and acne vulgaris is limited. ..
- Kuwashima S. Hoyeraal-Hreidarsson syndrome: magnetic resonance imaging findings. Jpn J Radiol. 2009;27:324-7 pubmed publisher..A brain computed tomography scan revealed intracranial calcification as well. To the best of our knowledge, a small pituitary gland and focal long T2 lesions in the thalamus and brain stem have never been reported as a feature of HH. ..
- Kang H. Melasma and aspects of pigmentary disorders in Asians. Ann Dermatol Venereol. 2012;139 Suppl 4:S144-7 pubmed publisher..The cases seem to represent a continuum of Riehl's melanosis. Subclinical injury or inflammation may play a role as possible causative factors for the development of the pigmentation...
- Browning J, Mohr B. Epidermolysis bullosa simplex with mottled pigmentation. Dermatol Online J. 2012;18:9 pubmed..Epidermolysis bullosa is a rare disorder with several variants. Included in this disorder is epidermolysis bullosa with mottled pigmentation (EBS-MP). We report a case of a young child with this rare disorder and explain the genetic cause. ..
- Oh T, Lee Y, Lim B, Lim J. Inhibition of NAT10 Suppresses Melanogenesis and Melanoma Growth by Attenuating Microphthalmia-Associated Transcription Factor (MITF) Expression. Int J Mol Sci. 2017;18: pubmed publisher..growth through the regulation of microphthalmia-associated transcription factor (MITF) expression and provide a promising strategy for the treatment of various skin diseases (melanoma) and pigmentation disorders (chloasma and freckles).
- Frković S, Durisević I, Trcić R, Sarnavka V, Gornik K, Muzinić D, et al. Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation. Coll Antropol. 2010;34:247-50 pubmed..Despite the excessive postnatal growth we found low serum growth hormone levels and reduced response to pharmacological stimulation test. This is also the first report of a postnatal patient in our country. ..
- Consigli J, Zanni M, Ragazzini L, Danielo C. Dyschromatosis symmetrica hereditaria: report of a sporadic case. Int J Dermatol. 2010;49:918-20 pubmed publisher..It has been rarely reported in nonoriental races and spontaneous cases are scarce. We report a spontaneous case in the West, a boy 6 years of age, with a typical presentation and who was confused initially with vitiligo. ..
- Rossi A, Alexis A. Cosmetic procedures in skin of color. G Ital Dermatol Venereol. 2011;146:265-72 pubmed..Here we review leading esthetic concerns in the darker skinned patient and discuss approaches to treatment. ..
- Pavlovic S, Krunic A, Bulj T, Medenica M, Fong K, Arita K, et al. Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. Pediatr Dermatol. 2012;29:258-63 pubmed publisher..APSS is a clinically and genetically heterogeneous disorder, and this Jordanian pedigree underscores the likelihood of still further heterogeneity. ..
- Tanaka E, Yamazaki H, Yoshida K, Takenaka T, Masuda N, Kotsuma T, et al. Objective and longitudinal assessment of dermatitis after postoperative accelerated partial breast irradiation using high-dose-rate interstitial brachytherapy in patients with breast cancer treated with breast conserving therapy: reduction of moistur. Int J Radiat Oncol Biol Phys. 2011;81:1098-104 pubmed publisher..The radiation dermatitis caused by APBI using the present schedule showed an equivalent effect on skin color and a less severe effect on moisture than the effects caused by standard EBRT. ..
- Lee Y, Chao S, Lee J. Naevus anaemicus-like hypopigmented macules in dyskeratosis congenita. Australas J Dermatol. 2011;52:142-5 pubmed publisher..The naevus anaemicus-like macules may be a relatively common but under-recognized feature in DC. More studies are required to determine the incidence and histopathology of these macules. ..
- Abdul Gaffar R, Abdul Majid F, Sarmidi M. Tyrisonase inhibition and melanin reduction of human melanocytes (HEMn-MP) using Anacardium occidentale L extract. Med J Malaysia. 2008;63 Suppl A:100-1 pubmed..The extracts were exposed to the human melanocytes for more than 24 hours. The CLE extract exhibited potential as tyrosinase inhibitor, reduced melanin and high in antioxidant activity relative to commercial extract of Emblica sp. ..
- Khemir S, El Asmi M, Sanhaji H, Feki M, Jemaa R, Tebib N, et al. Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment. Clin Neurol Neurosurg. 2011;113:727-30 pubmed publisher..2%) and pigmentation anomalies (61.7%). The treated patients responded to treatment and showed a normal development. The establishment of neonatal screening should be a priority to avoid cases of mentally retardation. ..
- Froes G, Pereira L, Rocha V. [Case for diagnosis. Dyschromatosis symetrica hereditaria]. An Bras Dermatol. 2009;84:425-7 pubmed..Differentiation with others reticulate pigmentation manifestations is necessary. ..
- Aggarwal N, Gandham S, Weinstein R, Saltzmann R, Walton D. Heterochromia iridis and pertinent clinical findings in patients with glaucoma associated with Sturge-Weber syndrome. J Pediatr Ophthalmol Strabismus. 2010;47:361-5 pubmed publisher..Careful examination for heterochromia iridis may be judicious in these patients. ..
- Dyduch G, Zuber Z, Turowska Heydel D, Sobczyk M, Wielowieyska Szybińska D, Białas M. Granulomatous pigmented purpura in an adolescent girl: a precursor of mycosis fungoides?. Pol J Pathol. 2013;64:157-9; answer 160 pubmed..We report a pediatric patient with granulomatous variant of pigmented purpuric dermatitis of 8 years duration. ..
- Krunic A, Stone K, Simpson M, McGrath J. Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. Pediatr Dermatol. 2013;30:e87-8 pubmed publisher..Our study expands the molecular pathology of APSS and demonstrates the value of next-generation sequencing in the genetic characterization of inherited skin diseases. ..
- Rubegni P, Cevenini G, Nami N, Argenziano G, Saida T, Burroni M, et al. Dermoscopy and digital dermoscopy analysis of palmoplantar 'equivocal' pigmented skin lesions in Caucasians. Dermatology. 2012;225:248-55 pubmed publisher..DDA might be a useful diagnostic instrument in the evaluation of preselected PP-PSL. However, these findings should be confirmed in a formal clinical trial. ..
- Hozumi H, Takeda K, Yoshida Amano Y, Takemoto Y, Kusumi R, Fukuzaki Dohi U, et al. Impaired development of melanoblasts in the black-eyed white Mitf(mi-bw) mouse, a model for auditory-pigmentary disorders. Genes Cells. 2012;17:494-508 pubmed publisher..Finally, forced expression of Mitf-M in the cultured neural tube of bw embryos ensured the differentiation of melanoblasts. Therefore, the correct dose of Mitf-M is required for the normal development of melanoblasts. ..
- Hirokawa D, Lee J. Dermatoscopy: an overview of subsurface morphology. Clin Dermatol. 2011;29:557-65 pubmed publisher..This review highlights the contribution of dermatoscopy with respect to morphologic characterization and evaluation of pigmented skin lesions. ..
- Doherty S, Doherty C, Markus J, Markus R. A paradigm for facial skin rejuvenation. Facial Plast Surg. 2009;25:245-51 pubmed publisher..Their results are promising but require further study. ..
- Siegel D, Mann J, Krol A, Rauen K. Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development. Br J Dermatol. 2012;166:601-7 pubmed publisher..The dermatological features of CS, a Ras dysregulation syndrome, share many features with cutaneous paraneoplastic syndromes. This may provide further insight into the role of Ras signalling in cutaneous paraneoplastic syndromes. ..
- Akkash L, Badran D, Al Omari A. Terra Firma forme dermatosis. Case series and review of the literature. J Dtsch Dermatol Ges. 2009;7:102-7 pubmed publisher..We describe a series of four patients with the disorder, discuss differential diagnostic considerations and review the literature. ..
- Smith A, Rushing E, Smirniotopoulos J. Pigmented lesions of the central nervous system: radiologic-pathologic correlation. Radiographics. 2009;29:1503-24 pubmed publisher..Pigmented lesions of the CNS are uncommon, and knowledge of their imaging characteristics and pathologic features is essential for their identification. ..
- Laure B, Petraud A, Sury F, Bayol J, Marquet Van Der Mee N, de Pinieux G, et al. [Black bone disease of the skull and facial bones]. Rev Stomatol Chir Maxillofac. 2009;110:303-5 pubmed publisher..This abnormal pigmentation may affect various organs or tissues. Bone pigmentation is irreversible unlike that of the mouth mucosa or of the skin. This abnormal pigmentation is usually discovered accidentally. ..
- Kaplan R, Meehan S, Leger M. A case of isotretinoin-induced purpura annularis telangiectodes of Majocchi and review of substance-induced pigmented purpuric dermatosis. JAMA Dermatol. 2014;150:182-4 pubmed publisher..The lesions have continued to fade, and no new lesions have developed in a 3-month follow-up period. Drug-induced PPD is distinct from idiopathic PPD, and it is important to consider isotretinoin as a potential inciting agent. ..
- Kandil E, Khalek M, Ibrahim W, Alabbas H, Yau C, Friedlander P, et al. Papillary thyroid carcinoma in black thyroids. Head Neck. 2011;33:1735-8 pubmed publisher..Furthermore, among those with papillary thyroid cancer, the presence of the pigment did not correlate with malignancy, multifocality, or tumor size. ..
- Moutray T, Napier M, Shafiq A, Fryer A, Rankin S, Willoughby C. Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting. Am J Med Genet A. 2010;152A:718-20 pubmed publisher..DNA testing confirmed monozygosity. This case of MZTs discordant for PPV supports the hypothesis that PPV results from mosaicism due to a post-zygotic mutational event and the concept of twin spotting...
- Liu J, Sun J, Vano Galvan S, Liu F, Wei X, Ma D. Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing. Chin Med J (Engl). 2016;129:33-8 pubmed publisher..1325C>G) and one recurrent mutation in ABCB6 (c. 1270T>C), which successfully distinguished two diseases with the similar phenotype. Targeted gene sequencing is an effective tool for genetic diagnosis in pigmentary skin diseases. ..