Pigmentation Abnormalities: Causes & Reasons

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Possible Causes for Pigmentation Abnormalities

Dyskeratosis Congenita

Dyskeratosis congenita: An inherited cause of bone-marrow failure, dyskeratosis congenita is a syndrome characterized by abnormal excess skin pigmentation, abnormal or absent [medicinenet.com]

Symptoms of DC may include abnormal skin pigmentation, abnormal nail growth, and white patches inside the mouth (leukoplakia). [childrensmn.org]

Niemann-Pick Disease

Niemann-Pick disease (NPD) is an autosomal recessive disorder, observed most frequently in Ashkenazi Jews, where there is a deficiency of the lysosomal enzyme sphingomyelinase, leading to accumulation of sphingomyelin in cells of the monocyte-macrophage system and reticular endothelial cells. Patients with type A NPD[…] [symptoma.com]

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]

Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

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

On the fundus we found pigment abnormalities (Figure 3) around the small optic nerve head and on the posterior pole. We did not find retinal detachment. [omicsonline.org]

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

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 of the hair, … View Full Text Log in using your username and password Log in through your institution You may be able to gain access using your login credentials [pedsinreview.aappublications.org]

Patients usually present in the neonatal period with pigmentary anomalies (including white forelock, eyebrows and eyelashes, heterochromia of the irides, possibly retinal pigment [orpha.net]

Bloch Sulzberger Syndrome

Note that chromosomal mosaicism can manifest swirled and linear pigmentation abnormalities in both males and females. [orpha.net]

(M8720/0) unius lateris 757.33 verrucous 757.33 Pigmentation (abnormal) 709.00 lids (congenital) 757.33 scrotum, congenital 757.33 Poikiloderma 709.09 congenital 757.33 Rothmund [icd9data.com]

Any condition with 'linear and swirled' pigmentation overlaps with stage III. Stage IV resembles scarring, vitiligo, or other hypopigmentations with localized alopecia. [orpha.net]

Acromelanosis

(abnormal) 709.00 Poikiloderma 709.09 Civatte's 709.09 Purpura 287.2 pigmentaria, progressiva 709.09 Riehl's melanosis 709.09 Schamberg's disease, dermatitis, or dermatosis [icd9data.com]

Although, to our knowledge, tigecycline hyperpigmentation has not yet been reported elsewhere, significant literature exists describing various pigmentation abnormalities [academic.oup.com]

Riehl's 709.09 tar 709.09 toxic 709.09 Melasma 709.09 Nevus (M8720/0) - see also Neoplasm, skin, benign anemic, anemicus 709.09 avasculosus 709.09 Piebaldism, classic 709.09 Pigmentation [icd9data.com]

Incontinentia Pigmenti Achromians

abnormalities - myopia (nearsightedness) - night blindness - detached retina orthopaedic problems: - scoliosis - hemihypertrophy (asymmetry of growth on either side of the [contact.org.uk]

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]

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]

[…] chronic constipation, gastroesophageal reflux disorder, urinary voiding dysfunction, abnormal skin pigmentation, and dysmorphic features. [ncbi.nlm.nih.gov]

X-Linked Recessive Ocular Albinism

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]

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]

Retinitis pigmentosa Mosaic retinal pigmentation, abnormal electroretinographic findings Anhidrotic ectodermal dysplasia Sweat pore counts reduced, dental anomalies Lowe [clinicalgate.com]

Carney Complex

Carney complex is a syndrome characterized by skin pigmentation abnormalities, myxomas, endocrine tumors/overactivity, and schwannomas. [ncbi.nlm.nih.gov]

Tests Available PRKAR1A Gene Sequencing & Del/Dup Forms and Documents Test Details Clinical Utility: An individual with a personal and family history of skin pigment abnormalities [genedx.com]

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]

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]

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]

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

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

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]

Ermine Phenotype

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

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

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

Oculocutaneous Albinism Type 6

abnormalities. [omicsonline.org]

The exact mechanism by which the absence of pigmentation leads to foveal hypoplasia and abnormal decussation of optic nerve fibers is not completely understood. [emedicine.medscape.com]

[…] pigmentary skin changes / skin pigmentation anomalies - Iris albinism / ocular albinism - Nystagmus Frequent - Excessive freckling - Hair and scalp anomalies - Strabismus [csbg.cnb.csic.es]

Retinal Telangiectasia

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]

retinal hemorrhage; and abnormal electroretinopathy. [ncbi.nlm.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]

Dubin–Johnson syndrome may manifest as conjugated hyperbilirubinemia, darkly pigmented liver, presence of abnormal pigment in the parenchyma of hepatocytes and abnormal distribution [hal.inserm.fr]

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

Ocular Albinism

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]

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]

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]

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]

Hoyeraal-Hreidarsson Syndrome

There are often signs of dyskeratosis congenita with unusual skin pigmentation, abnormal nails, sparse hair, and scarring of oral membranes and those of the eye (conjunctiva [disorders.eyes.arizona.edu]

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

Individuals with HHS are at risk for progressive bone marrow failure, myelodysplastic syndrome or acute leukemia, solid tumors of the head/neck, pulmonary fibrosis, and abnormal [secure.ssa.gov]

Gardner Syndrome

[…] epithelium (a flat, pigmented spot within the outer layer of the retina ) Benign skin abnormalities such as epidermoid cysts, fibromas (a benign tumor of the connective tissue [rarediseases.info.nih.gov]

Fundic gland or adenomatous polyps of the stomach Adenomatous polyps of the small intestines Osteomas (benign bone growths) Congenital hypertrophy of the retinal pigment [rarediseases.info.nih.gov]

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]

Mosaic Trisomy 14

[…] skin pigmentation structural defect(s) of the heart such as tetralogy of Fallot minor genital abnormalities in boys such as undescended testes distinctive facial characteristics [rarediseases.info.nih.gov]

[1][2] intrauterine growth restriction feeding difficulties failure to thrive some degree of developmental delay or intellectual disability slightly asymmetrical growth abnormal [rarediseases.info.nih.gov]

Multiple Congenital Anomalies - Hypotonia - Seizures Type 2

Waardenburg Syndrome Type 2D

abnormality, hair pigmentation abnormality, dystopia canthorum, and a relative with the Waardenburg syndrome. [en.wikipedia.org]

It is characterized by the lack of pigmentation in the skin, hair, and eyes as well as the abnormalities in the outer wall of the cochlea. [en.wikipedia.org]

Type 2 of the Waardenburg Syndrome is defined by the abnormalities of auditory function and pigmentation in the hair, skin, and eyes as well as progressive hearing loss in [en.wikipedia.org]

Autosomal Recessive Microcephaly with Chorioretinopathy Type 1

[from NCI] Show allHide all Abnormality of head or neck Microcephaly Sloping forehead Abnormality of the eye Abnormality of retinal pigmentation Cataract (disease) Chorioretinal [ncbi.nlm.nih.gov]

Affiliated tissues include eye and cerebellum, and related phenotypes are microcephaly and abnormality of retinal pigmentation Human phenotypes related to Autosomal Recessive [malacards.org]

pigmentation Abnormality of the musculoskeletal system Microcephaly Abnormality of the nervous system Cerebral atrophy Cortical gyral simplification Global developmental [ncbi.nlm.nih.gov]

Waardenburg Syndrome Type 4C

Patients usually present in the neonatal period with pigmentary anomalies (including white forelock, eyebrows and eyelashes, heterochromia of the irides, possibly retinal pigment [orpha.net]

Major Criteria: Congenital sensorineural hearing loss, white forelock, hair hypopigmentation; pigmentation abnormality of the iris: complete heterochromia iridum (irides of [preventiongenetics.com]

abnormality of an inner corner of one or both eyes, also known as the canthi parent or sibling with Waardenburg syndrome Minor criteria for making a diagnosis include: white [healthline.com]

Waardenburg Syndrome Type 4B

abnormality of an inner corner of one or both eyes, also known as the canthi parent or sibling with Waardenburg syndrome Minor criteria for making a diagnosis include: white [healthline.com]

It results in common Waardenburg syndrome symptoms such as abnormal hair and skin pigmentation and heterochromia, but also present with symptoms of Hirschsprung’s disease. [en.wikipedia.org]

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

Aleutian Mink Disease

In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. [hon.ch]