Abnormal Pigmentation: Causes & Reasons

Possible Causes for Abnormal Pigmentation

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

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]

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]

The three main components are early onset of puberty, abnormal skin pigmentation called café-au-lait spots, and a bone disorder called fibrous dysplasia of the bone. [pedsendo.org]

Hermanski-Pudlak Syndrome

PIGMENT CELLS IN THE BONE MARROW]. 56 VERLOOP MC...HUIZINGA J 14178495 1964 31 Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the [malacards.org]

Hermansky-Pudlak syndrome (HPS) is a rare syndrome which consists of: oculocutaneous hypopigmentation (albinism) platelet dysfunction abnormal storage of autofluorescent pigment [pacs.de]

[…] storage of autofluorescent pigment (ceroid or lipofuscin) typically occurs within lysosomal organelles of the cells of multiple organs and the reticuloendothelial system [radiopaedia.org]

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]

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]

Addison Disease

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

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]

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]

Additionally, extra-articular manifestations, leg ulcers, abnormal skin pigmentation, and hepatomegaly are not as common in TLGL as they are in FS. [physio-pedia.com]

Malignant Melanoma of the Skin

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]

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

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

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]

Glomerulonephritis

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

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]

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]

Gaucher Disease

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

Yellowish-brown skin pigmentation Genetics[edit] The three types of Gaucher's disease are autosomal recessive. Both parents must be carriers for a child to be affected. [en.wikipedia.org]

[…] 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]

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]

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]

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]

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]

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]

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]

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

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]

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]

pigmentation of the fundus Type 2 Type 2 has similar clinical features to type 1 Waardenburg syndrome, but the inner canthi are normal. [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]

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]

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

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]

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]

[…] of abnormal pigment in hepatic parenchymal cells. [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]

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]

[…] 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]

Hoyeraal-Hreidarsson Syndrome

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]

On the other hand, the child lacked abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. [karger.com]