Pigmentation-abnormalities: Causes & Reasons

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Possible Causes for pigmentation abnormalities

Niemann-Pick Disease

Niemann-Pick disease (NPD) is a heterogenous group of progressive neurovisceral disorder characterised by lysosomal accumulation of sphingomyelin. NPD types A and B are caused by mutations involving sphingomyelin-phosphodiesterase-1 (SMPD1) gene and are characterised by deficiency of acid sphingomyelinase activity.[…] [ncbi.nlm.nih.gov]

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]

Vulvitis

[…] or vascular abnormalities. [ncbi.nlm.nih.gov]

Lichen aureus is localized variant of persistent pigmented purpuric dermatitis that typically affects the legs and can be associated with delayed hypersensitivity reactions [ncbi.nlm.nih.gov]

Familial Cutaneous Collagenoma

Symptoms related to Familial cutaneous collagenoma include: Skin pigmentation abnormality Genital system abnormality Aplasia Hypoplasia of the iris Iris atrophy Testicular [familydiagnosis.com]

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

pigmented lesions, short stature, microcephaly, and learning disabilities. [dermatologyadvisor.com]

Constipation

Abstract Waardenburg syndrome is characterized by hearing loss, pigmentation abnormalities, dysmorphologic features, and neurological phenotypes. [ncbi.nlm.nih.gov]

Prolonged use of stimulant laxatives can create abnormal deposits of a dark pigment in the lining of the large intestine (a condition called melanosis coli). [merck.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 [en.academic.ru]

Vitamin B12 Deficiency

In addition to neurological symptoms, infants may experience other physical symptoms, including abnormal pigmentation, hypotonia, enlarged liver and spleen, sparse hair, food [ncbi.nlm.nih.gov]

Nonneurologic manifestations include the following: General - Lemon-yellow waxy pallor, premature whitening of hair, flabby bulky frame, mild icterus, and blotchy skin pigmentation [emedicine.medscape.com]

[…] patients Cardiovascular - Tachycardia, congestive heart failure Gastrointestinal - Beefy, red, smooth, and sore tongue with loss of papillae that is more pronounced along edges Abnormal [emedicine.medscape.com]

Gardner 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]

These may include high risk screening, prophylactic surgeries and/or certain types of medications. 0012032 Thyroid nodule 0025388 5%-29% of people have these symptoms Abnormality [rarediseases.info.nih.gov]

Anemia

Sickle cell anemia is an inherited disorder in which abnormal hemoglobin (the red pigment inside red blood cells) is produced. [mountsinai.org]

The abnormal hemoglobin causes red blood cells to assume a sickle shape, like the ones seen in this photomicrograph. Red blood cells (RBCs) are normally round. [mountsinai.org]

Rosacea

Pigmentary deposition is another problem, which results when the skin turns abnormal pigments (usually very light) permanently. 6. [draxe.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]

Ovarian Cyst

[…] of bone structure and skin pigmentation. [medical-dictionary.thefreedictionary.com]

McCune-Albright syndrome (MCAS) — A genetic syndrome characterized in girls by the development of ovarian cysts and puberty before the age of 8, together with abnormalities [medical-dictionary.thefreedictionary.com]

Acne Vulgaris

pigmented vascular skin lesions, abnormal skin pigmentation, or body art (tattoos, permanent or temporary) on the face, which could interfere with subsequent study evaluations [ncbi.nlm.nih.gov]

Lymecycline 408mgs (300mgs) od 3-6 months Doxycycline 100mgs od 3-6 months Minocycline SA 100mgs od 3-6 months (advise of abnormal LFT’s, irreversible cutaneous pigmentation [hse.ie]

Presence of facial nodules and “cysts” Female patients who were pregnant, nursing or planning a pregnancy during the study Facial hair, a degree of skin pigmentation, abnormal [ncbi.nlm.nih.gov]

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]

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]

Actinic Keratosis

Discoid lupus erythematosus (shows abnormal pigmentation, dilated follicles and atrophy). [patient.info]

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]

Dermatitis

These patients should also report to their health care prpfessionals any peculiar skin abnormalities, including abnormally pigmented areas and skin that is changing color [medicinenet.com]

These patients should also report to their health-care practitioners any peculiar skin abnormalities, including abnormally pigmented areas and skin that is changing color [web.archive.org]

pigmentation. [britannica.com]

Ganglion Cyst

Physical examination may reveal edema with tenderness; however, there are usually no abnormal findings. [spandidos-publications.com]

[…] but it must be differentially diagnosed from a unicameral bone cyst, aneurysmal bone cyst, chondromyxoid fibroma, Brodie's abscess, giant-cell tumor, fibrous dysplasia and pigmented [spandidos-publications.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]

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

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]

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]

Hypogonadism

joint pains, diabetes, or abnormal liver blood tests, rather than through familial screening or serendipity (65% before 1996 vs. 41% after; by Pearson’s χ 2 test, P 0.018 [academic.oup.com]

[…] we found that significantly more patients presented in the earlier period of the study because of the presence of symptoms or complications of the disease, such as skin pigmentation [academic.oup.com]

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]

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]

Fibroma

Mental retardation Hypogonadism Occular and cardiovascular abnormalities Epidemiology Non-ossifying fibroma can be present in up to 30% of children. [orthopaedicsone.com]

Finally, the retinal examination of the child showed no signs of congenital hypertrophy of the retinal pigment epithelium (CHRPE). [onlinelibrary.wiley.com]

[…] location metaphysis of long bones 80% in lower extremity distal femur proximal tibia distal tibia uncommon in proximal femur, proximal humerus Pathophysiology possibly due to abnormal [orthobullets.com]

Scoliosis

pigmentation, e.g., café-au-lait spots, a sign of neurofibromatosis. [doi.org]

[…] pronounced focal growth of hair over the lumbar spine frequently accompanies incomplete fusion of the laminae and can indicate a neurological cause of scoliosis, as can abnormal [doi.org]

Puerperium

abnormal stress response). 37 Many of these symptoms overlap common postpartum findings, so the diagnosis may be elusive, especially if necrosis is incomplete and areas [glowm.com]

Posterior segment examination: Example, abnormal retinal pigmentation seen in Kearn-Sayre syndrome Cogan's lid twitch: Elicited by having the patient look in downgaze, followed [kjophthal.com]

[…] superinvolution” of the uterus, infertility, hypothyroidism (fatigue, cold intolerance, edema), and adrenocortical insufficiency (fatigue, anorexia, weight loss, decreased skin pigmentation [glowm.com]

Third Trimester Pregnancy

Bednar tumors, often called pigmented dermatofibrosarcoma protuberans, contain dark-colored (pigmented) cells called melanin-containing dendritic cells. [ghr.nlm.nih.gov]

Myxoid dermatofibrosarcoma protuberans tumors contain an abnormal type of connective tissue known as myxoid stroma. [ghr.nlm.nih.gov]

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]

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]

Thrombocytopenia

Skin abnormalities: abnormal skin pigmentation in Fanconi anemia, necrotic skin lesions in HIT patients, eczema in Wiskott-Aldrich syndrome (WAS), “lacy” skin pigmentation [ncbi.nlm.nih.gov]

[…] associated with abnormal growth and shape of nails in dyskeratosis congenita. [ncbi.nlm.nih.gov]

eyes, kidneys and urinary tract, ears (MYH9-related disorders [May-Hegglin anomaly associated with MYH9 gene]), heart, gastrointestinal system, central nervous system abnormalities [ncbi.nlm.nih.gov]