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]

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]

[…] 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]

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]

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]

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]

[…] 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]

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]

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]

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]