Abnormal Pigmentation: Causes & Reasons

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Possible Causes for Abnormal Pigmentation

Xeroderma Pigmentosum Complementation Group B

The skin develops marked freckling and other pigmentation abnormalities. [uniprot.org]

The skin develops marked freckling and other pigmentation abnormalities. XP-E patients show a mild phenotype with minimal or no neurologic features. [malacards.org]

[…] skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities [uniprot.org]

Skin Atrophy

Abstract Kindler Syndrome (KS), characterized by transient skin blistering followed by abnormal pigmentation, skin atrophy, and skin cancer, is caused by mutations in the [ncbi.nlm.nih.gov]

Rarely, patches of skin on the arms, legs, and/or trunk may have similar pigmentation abnormalities. [rarediseases.org]

Some affected individuals have a condition called vitiligo, a skin condition in which loss of color (pigmentation) of areas of skin results in the development of abnormal [rarediseases.org]

Amish Infantile Epilepsy Syndrome

Optic atrophy is present but no retinal abnormalities have been reported. [disorders.eyes.arizona.edu]

ERG amplitudes and retinal pigmentation are normal. Visual impairment is pronounced with no reactions to threatening visual stimuli. [disorders.eyes.arizona.edu]

Discoid Lupus Erythematosus

Malignant transformation of DLE is rare, however, skin cancer may be more common among blacks because of the absence of pigmentation in the chronic lesions, coupled with the [symptoma.com]

[…] a detailed evaluation to detect serologic abnormalities, hematologic disorders, serosal inflammation such as pleuritis and pericarditis, neurological sequalae, and renal abnormalities [symptoma.com]

Dyskeratosis Congenita

Abstract Dyskeratosis congenita is characterised by abnormal pigmentation of skin, dystrophy of nails, and mucosal leukoplakia mainly on the tongue. [ncbi.nlm.nih.gov]

It is also characterized by triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. [ncbi.nlm.nih.gov]

Dyskeratosis congenita is an unusual inherited disease characterized by the triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. [ncbi.nlm.nih.gov]

3q29 Microdeletion

Additional features-including microcephaly, cleft lip and palate, horseshoe kidney and hypospadias, ligamentous laxity, recurrent middle ear infections, and abnormal pigmentation-were [research.manchester.ac.uk]

pigmentation Genes involved The deletion encompasses 22 genes, including PAK2 DLG1 References Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, Fitzpatrick DR, [humpath.com]

Additional features--including microcephaly, cleft lip and palate, horseshoe kidney and hypospadias, ligamentous laxity, recurrent middle ear infections, and abnormal pigmentation [research.ed.ac.uk]

Osteitis Fibrosa Disseminata

Albright like syndrome, Osteitis fibrosa disseminata, Polyostotic, fibrous dysplasia, Precocious puberty with polyostotic fibrosis and abnormal pigmentation, MAS, PFD, POFD [checkorphan.org]

A condition affecting one, several or many bones, the graver cases of which may present with abnormal pigmentation of skin, premature sexual development, hyperthyroidism or [whonamedit.com]

Pigmentation. [amazon.in]

Klein-Waardenburg Syndrome

His mother’s aunt showed a lateral iris pigmentation abnormality (Figure 1a:14), and his mother’s elder sister showed a lateral iris pigmentation abnormality and bilateral [nature.com]

abnormalities Abnormalities of hair pigmentation, such as white forelock, eyebrows, or eyelashes Dystopia canthorum – lateral displacement of inner canthi First degree relative [dermnetnz.org]

[…] of the eyes, such as heterochromia iridis (differently coloured eyes), which may be complete, partial, or segmental; isohypochromia iridis (pale blue eyes); or abnormal pigmentation [dermnetnz.org]

Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

Myopia Microphthalmia Nystagmus Optic atrophy Abnormality of retinal pigmentation • • • Back to: « Retinal degeneration-nanophthalmos-glaucoma syndrome References Source: [familydiagnosis.com]

Scleral thickening Anophthalmia Abnormality of retinal pigmentation Abnormal choroid morphology Abnormality of the retinal vasculature Abnormal anterior chamber morphology [mendelian.co]

Showing of 15 | 80%-99% of people have these symptoms Abnormal electroretinogram 0000512 Abnormality of retinal pigmentation 0007703 Microphthalmia Abnormally small eyeball [rarediseases.info.nih.gov]

Dubin-Johnson Syndrome

Dubin-Johnson syndrome may manifest as conjugated hyperbilirubinemia, darkly pigmented liver, presence of abnormal pigment in the parenchyma of hepatocytes and abnormal distribution [ncbi.nlm.nih.gov]

pigment present in the hepatic cell. [mdedge.com]

[…] of abnormal pigment in hepatic parenchymal cells. [ncbi.nlm.nih.gov]

Incontinentia Pigmenti Achromians

In seven the skin was darkly pigmented, and in all of these seven cases the abnormal pigmentation followed Blaschko lines. [ncbi.nlm.nih.gov]

pigmentation associated with developmental delay or structural malformations. [ncbi.nlm.nih.gov]

Loss of this locus is believed to be associated with abnormalities of pigmentation, such as the hypopigmentation seen in patients with deletions of 15q11q13, and the Prader-Willi [ncbi.nlm.nih.gov]

Carney Complex

It is associated with many other nonendocrine tumors, including cardiac myxomas, testicular tumors, melanotic schwannoma, breast myxomatosis, and abnormal pigmentation or [ncbi.nlm.nih.gov]

It is associated with many other nonendocrine tumors, including cardiac myxomas, testicular tumors, melanotic schwannoma, breast myxomatosis, and abnormal pigmentation (lentiginosis [ncbi.nlm.nih.gov]

First described in 1985, Carney complex is a rare, heritable disorder featuring abnormal skin pigmentation, cardiac and cutaneous myxoma, melanotic schwannoma of psammomatous [ncbi.nlm.nih.gov]

Bloch Sulzberger Syndrome

The retinal pigment epitheliopathy and the abnormalities of retinal vessels are thought to be the underlying pathognomonic findings, with all other ocular signs being secondary [ncbi.nlm.nih.gov]

Abnormalities of the retinal pigment epithelium, including peripheral hypopigmented areas, have been reported occasionally in patients with IP. [ncbi.nlm.nih.gov]

However, there is no inflammatory stage preceding the abnormal pigmentation in HI. [cancertherapyadvisor.com]

Hoyeraal-Hreidarsson Syndrome

pigmentation changes to the upper chest/neck, eye abnormalities, dental abnormalities, developmental delay, cerebellar hypoplasia, bilateral exudative retinopathy, and intracranial [secure.ssa.gov]

pigmentation changes to the upper chest/neck; • Bilateral exudative retinopathy; and • Intracranial calcifications. [secure.ssa.gov]

DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, abnormal skin pigmentation, and oral leukoplakia; Hoyeraal-Hreidarsson syndrome (HH), [ncbi.nlm.nih.gov]

Rotor Syndrome

[…] of skin pigmentation Abnormal pigmentation Abnormal skin color Abnormal skin pigmentation Abnormality of pigmentation Pigmentary changes Pigmentary skin changes Pigmentation [rarediseases.info.nih.gov]

[…] of the gastric mucosa Abnormality of the mucous membrane layer of stomach 0004295 Fever 0001945 Percent of people who have these symptoms is not available through HPO Abnormality [rarediseases.info.nih.gov]

[…] anomaly [ more ] 0001000 Abnormality of the skeletal system Skeletal abnormalities Skeletal anomalies [ more ] 0000924 Autosomal recessive inheritance 0000007 Showing of [rarediseases.info.nih.gov]

X-Linked Recessive Ocular Albinism

In heterozygous female carriers it can be present an abnormal pigmentation of the retina or the iris. Skin and ocular melanocytes contain giant melanosomes. [albinismo.eu]

Abnormalities of Pigmentation. In: Rimoin DL, Connor JM, Pyritz RE, Korf BR (eds) Emery and Rimoin’s Principles and Practice of Medical Genetics, 5th ed. [rarediseases.org]

Female relatives who carry the gene for ocular albinism will have some retinal pigment abnormalities (seen as mild iris transillumination) but usually will not have the visual [checkorphan.org]

Pigmented Paravenous Retinochoroidal Atrophy

It is characterized by the bilateral symmetrical appearance of posterior pole abnormalities including granular pigment cuffs around the larger retinal veins and their bifurcations [ncbi.nlm.nih.gov]

[…] all consistent with pigmented paravenous retinochoroidal atrophy. [ncbi.nlm.nih.gov]

[…] epithelial abnormality Retinal pigment epithelial hyperplasia Retinal pigment epithelial hypertrophy Retinal pigment epithelium atrophy Retinal vascular changes associated [icd9data.com]

Ermine Phenotype

Ermine phenotype has a distinct clinical presentation compared to other syndromes associated with abnormal pigment and deafness. [ncbi.nlm.nih.gov]

Overview Ermine phenotype: A very rare syndrome characterized by pigmentation abnormalities as well as deafness. [checkorphan.org]

[…] posturing Retrocollis Abnormality of skin pigmentation Nystagmus-induced head nodding Neoplasm of the skin Freckling Iris hypopigmentation Pendular nystagmus Abnormal pupil [mendelian.co]

Sulfhemoglobinemia

The more intense degrees of cyanosis seen clinically are due to abnormal pigments within the red cell — methemoglobin and sulfhemoglobin. [nejm.org]

Rather, the slate-gray skin color is the result of the spectral characteristics of the abnormal pigments. The. .. [nejm.org]

Ocular Albinism

It is not uncommon for females who carry the mutation in one of their X-chromosomes to have some features such as abnormal pigmentation in the iris and retina although vision [disorders.eyes.arizona.edu]

Examination of skin biopsies clearly indicated the cutaneous abnormality of giant pigment melanosomes (GPM) in both affected males and carrier females. [ncbi.nlm.nih.gov]

Such females will usually pass the abnormal X chromosome to half their children so that half of their sons will have ocular albinism and half of their daughters will be carriers [disorders.eyes.arizona.edu]

Retinohepatoendocrinologic Syndrome

abnormalities Radius absent anogenital anomalies Ramos Arroyo Clark syndrome Ramsay Hunt paralysis syndrome Rasmussen Johnsen Thomsen syndrome Rasmussen subacute encephalitis [mindmappedia.com]

abnormalities Radio-ulnar synostosis type 1 Radio-ulnar synostosis type 2 Radius absent anogenital anomalies Raine syndrome Rambam Hasharon syndrome Rambaud Galian syndrome [fact-index.com]

abnormalities Radio-ulnar synostosis type 1 Radio-ulnar synostosis type 2 Radius absent anogenital anomalies Raine syndrome Ram-Ray Rambam Hasharon syndrome Rambaud Galian [ssf.f15ijp.com]

Fleck Retina of Kandori

pigment epithelium mild night blindness Clinical features from OMIM: 228990 MalaCards organs/tissues related to Fleck Retina of Kandori: 42 Retina, Eye Search GEO for disease [malacards.org]

Symptoms via clinical synopsis from OMIM: 57 Eyes: fleck retina macula spared irregular variably-sized retinal flecks abnormal pigment epithelium mild night blindness Clinical [malacards.org]

Symptoms Eyes: Fleck retina; Macula spared; Irregular variably-sized retinal flecks; Abnormal pigment epithelium; Mild night blindness Inheritance: Autosomal recessive Description [findzebra.com]

Dubowitz Syndrome

0001874 Abnormality of skin pigmentation Abnormal pigmentation Abnormal skin color Abnormal skin pigmentation Abnormality of pigmentation Pigmentary changes Pigmentary skin [rarediseases.info.nih.gov]

[…] fingernail morphology Abnormal fingernails Abnormality of the fingernails [ more ] 0001231 Abnormality of cardiovascular system morphology 0030680 Abnormality of neutrophils [rarediseases.info.nih.gov]

[…] scalp hair [ more ] 0002209 Submucous cleft hard palate 0000176 Wide anterior fontanel Wider-than-typical soft spot of skull 0000260 5%-29% of people have these symptoms Abnormal [rarediseases.info.nih.gov]

Dyschromatosis Universalis Hereditaria Type 1

Expression analysis in human skin and mutagenesis interrogation in zebrafish confirmed the functional role of ABCB6 in melanocytes and pigmentation. [figshare.com]

The trunk and extremities are the dominant sites of abnormal pigmentation. [genecards.org]

pigmentation, the molecular basis of dyschromatosis universalis hereditaria (DUH) had remained unclear until recently when ABCB6 was reported as a causative gene of DUH. [figshare.com]

Dyschromatosis Universalis Hereditaria

The trunk and extremities are the dominant sites of abnormal pigmentation. [uniprot.org]

Expression analysis in human skin and mutagenesis interrogation in zebrafish confirmed the functional role of ABCB6 in melanocytes and pigmentation. [figshare.com]

Abnormalities of hair and nails have also been reported. [uniprot.org]

Retinal Telangiectasia

Some individuals have sparse hair, abnormal pigmentation of the skin, and dysplastic nails as well. [disorders.eyes.arizona.edu]

There have been only two reports of retinal pigmentation abnormalities and a single case of bilateral macular deposits in KMS, but this is the first report of a Coats type [ncbi.nlm.nih.gov]

CONCLUSIONS: There have been only two reports of retinal pigmentation abnormalities and a single case of bilateral macular deposits in KMS, but this is the first report of [ndcn.ox.ac.uk]

McCune-Albright Syndrome

Albright like syndrome, Osteitis fibrosa disseminata, Polyostotic, fibrous dysplasia, Precocious puberty with polyostotic fibrosis and abnormal pigmentation, MAS, PFD, POFD [checkorphan.org]

Pigmentation. [amazon.com]

Definition A disorder characterized by abnormalities in bone development, skin pigmentation, and endocrine gland function. [encyclopedia.com]

Ehlers-Danlos Syndrome Spondylodysplastic Type 1

[…] facial shape Unusual facial appearance 0001999 Abnormality of skin pigmentation Abnormal pigmentation Abnormal skin color Abnormal skin pigmentation Abnormality of pigmentation [rarediseases.info.nih.gov]

[…] pulmonic valve 0001642 Short stature Decreased body height Small stature [ more ] 0004322 Testicular torsion 0100813 Thin skin 0000963 30%-79% of people have these symptoms Abnormal [rarediseases.info.nih.gov]

Tumid Lupus Erythematosus

Permanent link : http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15027001 Author ALEXIADES-ARMENAKAS, Macrene R1 ; BALDASSANO, Marisa1 ; BINCE, Benji1 ; WERTH, Victoria1 ; BYSTRYN, Jean-Claude1 ; KAMINO, Hideko1 ; SOTER, Nicholas A1 ; FRANKS, Andrew G1 [1] New York University School of Medicine,[…] [pascal-francis.inist.fr]

Lupus Erythematosus Panniculitis

NEW !Translate documents faster and better thanks to artificial intelligence! Translation of "panniculite " (French → English) : Symptômes (Médecine) Symptoms (Medicine) panniculite fébrile nodulaire récidivante non suppurée [ maladie de Weber-Christian ] nodular nonsuppurative panniculitis [ relapsing febrile[…] [wordscope.com]