Pigmentation Abnormalities: Causes & Reasons

Possible Causes for Pigmentation Abnormalities

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 include abnormal skin pigmentation, abnormal nail growth, and leukoplakia (white patches inside the mouth). [seattlecca.org]

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]

Clinical Features Carney Complex (CNC) is a disorder that is characterized by skin pigment abnormalities, myxomas, endocrine overactivity or tumors, and schwannomas (Stratakis [preventiongenetics.com]

McCune-Albright Syndrome

The classic triad consists of 3 features: Patchy skin pigmentation Bone abnormalities Endocrine (hormonal) abnormalities, in particular early puberty At least 2 of these features [dermnetnz.org]

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

Hermanski-Pudlak Syndrome

HPS is characterized by partial or decreased pigmentation, abnormalities of blood platelets, and increased accumulation of fat-proteins Autosomal recessive: Autosomal recessive [dovemed.com]

Clinical Correlations: HPS is a pigmentation disorder similar to that of other forms of albinism but is unique in the association with abnormal bleeding. [disorders.eyes.arizona.edu]

[…] cellular storage: There may be an accumulation of ceroid (a golden-colored wax-like pigment) in the cells and tissues, causing cellular storage disorders These may affect [dovemed.com]

Hemochromatosis

Hemochromatosis can cause arthritis, liver disease, damage to the pancreas and adrenal gland, heart abnormalities, impotence, premature menopause, abnormal pigmentation of [diabetesselfmanagement.com]

such as irregular heart rhythms or congestive heart failure impotence early menopause abnormal pigmentation of the skin, making it look gray or bronze pituitary damage damage [liverfoundation.org]

[…] serious problems such as: arthritis liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure damage to the pancreas, possibly causing diabetes heart abnormalities [liverfoundation.org]

Addison Disease

The younger brother had been inactive during infancy and had diffuse skin pigmentation without abnormal external genitalia, while the elder brother had been healthy until [ncbi.nlm.nih.gov]

pigmentation should arouse suspicion of adrenocortical insufficiency. [ncbi.nlm.nih.gov]

Most myopathies that cause weakness can be differentiated by their distribution, lack of abnormal pigmentation, and characteristic laboratory findings. [msdmanuals.com]

Felty Syndrome

[…] brown pigmentation of the skin, particularly on the legs Investigations for Felty Syndrome • Presence of spleenomegaly, Hepatomegaly, Rheumatoid nodules. • Mild elevations [drthindhomeopathy.com]

In some cases, affected individuals may have discoloration (abnormal brown pigmentation) of the skin, particularly of the leg, sores (ulcers) on the lower leg, and/or an abnormally [en.wikipedia.org]

In some cases, affected individuals may have discoloration of the skin, particularly of the leg (abnormal brown pigmentation), sores (ulcers) on the lower leg, and/or an abnormally [rarediseases.org]

Malignant Melanoma of the Skin

LM melanocytic differentiation (e.g. pigment), abnormal architecture, lack of maturation, +/-nuclear atypia - esp. nucleoli, +/-upward scatter of melanocytes, +/-asymmetry [librepathology.org]

Using dermoscopy to evaluate pigmented lesions, the abnormal structural features of melanoma can be identified, borderline lesions may be closely observed and benign lesions [dermnetnz.org]

[…] of pigmentation LM DDx dysplastic nevus, Spitz nevus, common nevus (nevoid melanoma), atypical fibroxanthoma, (spindle cell) squamous cell carcinoma, leiomyosarcoma, serous [librepathology.org]

Glomerulonephritis

Pigmentation Endocrine abnormality in uremia Smoky urine Microscopic hematuria at glomerular level – RBC casts. Nephritic syndrome. [slideshare.net]

POEMS Syndrome

[…] blood protein cells Skin defects – increased skin pigment, increased body hair on face, limbs and chest, skin thickening or swelling Not all of these symptoms have to be [uamshealth.com]

In 1968 Shimpo described a patient with plasmacytoma, polyneuritis, and endocrine abnormalities ( Shimpo et al 1968 ). [medlink.com]

[…] blood protein (M-protein), and skin changes such as increased pigmentation or skin thickening. [cochrane.org]

Fanconi Renotubular Syndrome

[…] skin pigmentation. [malacards.org]

The patient's younger brother with multiple anomalies of the extremities, hydrocephalus, abnormal ears and genitalia died at the age of 17 months without pigmentation and [pediatrics.aappublications.org]

September 1952, 10 (3) 286-292; Abstract A case of Fanconi syndrome at an unusually young age presenting anemia, leukopenia, thrombocytopenia, microcephaly, hypogenitalism, skin pigmentation [pediatrics.aappublications.org]

Gaucher Disease

Pulmonary hypertension Cardiovascular[11] Restrictive pericarditis Myocardial infilitration Valve calicification Dermatologic[11] Brown-yellow pigmentation of the skin Neurological [physio-pedia.com]

[…] thoracic kyphosis and spinal cord compression Bone infarction Respiratory[11] Hypoxia due to pulmonary infiltrationand liver disease Restrictive lung disease Pulmonary function abnormalities [physio-pedia.com]

Toxic Epidermal Necrolysis

[…] scarring Eruptive nevi Nail changes (onychomadesis, anonychia, pterygium formation, ridging, dystrophy, abnormal pigmentation) Telogen effluvium Alopecia areata Chronic pruritus [emedicine.com]

(hyperhidrosis), hair loss (alopecia), and abnormal growth or loss of the fingernails and toenails. [web.archive.org]

[…] and can affect 23-100% of these patients. [8] Cutaneous complications can include the following: Postinflammatory dyspigmentation (hyperpigmentation or hypopigmentation) Abnormal [emedicine.com]

Whipple Disease

[…] color (pigmentation) of the skin, a decrease in blood pressure (hypotension), and abnormally high fevers that come and go. [rarediseases.org]

Other symptoms of Whipple disease may include: abnormally enlarged lymph nodes that are firm but usually not tender, an abnormally enlarged spleen (splenomegaly), increased [rarediseases.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]

Substance Abuse

Abstract The Substance Abuse Bureau of the Ontario Ministry of Health recently launched the Ontario Addictions Treatment Services Rationalization Project to increase the capacity of existing services and restructure the service delivery system. One of the recommended strategies was to shorten the length of[…] [ncbi.nlm.nih.gov]

Xeroderma Pigmentosum Complementation Group B

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

Pernicious Anemia

Pernicious anemia (Biermer's anemia, Addison's anemia) is a type of megaloblastic anemia, due to an inability to absorb vitamin B12 (cobalamin). Common symptoms include fatigue, irritability, confusion, depression, gastrointestinal symptoms, weight loss, neuropathic pain and glossitis. The clinical picture of pernicious anemia[…] [symptoma.com]

Discoid Lupus Erythematosus

[…] skin pigment on their scalp, and have severe scarring of the face and arms.[3] Patients with generalized discoid lupus often have abnormal lab tests, such as an elevated [en.wikipedia.org]

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]

[…] lesions in the typical above-the-neck locations, patients with generalized discoid lupus often have lesions on the thorax and the arms.[3] These patients are often bald, with abnormal [en.wikipedia.org]

Tricuspid Valve Insufficiency

This content requires an NEJM.org account. Create a free account now. Already have an account? Sign in. Images in Clinical Medicine Habib Ur Rehman, M.B., B.S. A 33-year-old woman who had received a diagnosis of tricuspid valve endocarditis caused by MRSA was evaluated for replacement of the tricuspid valve. Videos[…] [doi.org]

Niemann-Pick Disease

Synonyms: these include sphingomyelin lipidosis, sphingomyelinase deficiency Niemann-Pick disease (NP disease) is a group of genetic conditions inherited in an autosomal recessive pattern. It involves the accumulation of sphingolipids in cells throughout the body, particularly 'reticuloendothelial' cells (the mononuclear[…] [patient.info]

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]

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]

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]

[…] includes abnormalities of the upper limbs Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, [centogene.com]

Osteitis Fibrosa Disseminata

[…] with polyostotic fibrosis and abnormal pigmentation, POFD Zusammenfassung Dieser Beitrag enthält keine Zusammenfassung Summary McCune-Albright syndrome (MAS) is a disease [ai-online.info]

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

LichtensteinJaffee LHL: Fibrous dysplasia of bone: a condition affecting one, several or many bones, the graver cases of which may present abnormal pigmentation of skin, premature [acpjournals.org]

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]

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]

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]

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

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

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]

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]

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]

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]