In addition to congenital anomalies and developmental delay, blond hair, fair skin and unusual urinary odor were noted.[ncbi.nlm.nih.gov] Each of the patients had a similar clinical presentation or phenotype with features including mental retardation, a "mousy" odor, and dermatitis.[medschool.lsuhsc.edu] This may explain why persons with phenylketonuria generally have blond hair, blue eyes, and fair skin.[britannica.com]
This may explain why persons with phenylketonuria generally have blond hair, blue eyes, and fair skin.[britannica.com] Characteristic physical findings include: light hair, eye, and skin pigmentation an eczematous rash hyperactive behavior a musty or mousy odor (due to phenylacetic acid in[epilepsy.com] The presence of phenylacetate in the urine imparts a "mousy" odor.[themedicalbiochemistrypage.org]
' odor—and treated by restricting dietary phenylalanine, results in tremors, seizures, eczema, hyperactivity, and hypopigmentation and IQ of 50; other hyperphenylalaninemia[medical-dictionary.thefreedictionary.com] Each of the patients had a similar clinical presentation or phenotype with features including mental retardation, a "mousy" odor, and dermatitis.[medschool.lsuhsc.edu] ” odor from the breath, urine and skin.[news-medical.net]
hair with yellow-gray metallic sheen, small eyes with cloudy corneas, jerky nystagmus, gingival fibromatosis and severe menta...[encyclo.co.uk] […] fibrous chordee phenylketonuria AR; hyperphenylalaninemia due to phenylalanine 4-monooxygenase deficiency; eczema, hypopigmentation of hair & skin, MR, seizures, tumors, mousy[dermadvocate.net] " Cross syndrome ", " hypopigmentation and microphthalmia ", and " oculocerebral-hypopigmentation syndrome ") is an extremely rare disorder characterized by white skin, blond[en.wikipediam.org]
Race: People with fair skin, freckling or red or blond hair have a higher risk.[idph.state.il.us] hair; and a family history of unusual moles or melanoma.[livescience.com] Fair hair which is often blond, but also dark blond and black hair. Skin type 3 – Sometimes red but always tans after a while. Skin type 4 – Never burns.[oncolex.org]
People at the highest risk for developing basal cell carcinoma have fair skin, red or blond hair, and green, blue, or gray eyes.[nyulangone.org] Individuals with light-colored skin, freckled skin, blond hair, red hair, and light eyes have a greater risk for skin cancer.[innerbody.com] Red or blond hair.[web.archive.org]
[…] that is composed of round cells; often absent in fine and naturally blond hair. technical term for beaded hair. infestation of the hair and scalp with head lice.[quizlet.com] Favus is characterized by thick yellow crusts with suppuration, a honeycomb appearance, a distinct "mousy" odor, permanent scars, and alopecia.[medical-dictionary.thefreedictionary.com] A mousy odor typically is present.[emedicine.medscape.com]
People with fair skin who sunburn easily; have trouble tanning; have blue, green, or hazel eyes; and red or blond hair are most at risk for developing actinic keratoses.[skinsight.com] Epidemiology AK occurs most often in individuals with fair skin, blonde hair and blue eyes at a rate according to cumulative UV exposure.[patient.info]
Gut. 1994 Aug;35(8):1112-5. Author information 1 University Department of Medicine and Therapeutics, Western Infirmary, Glasgow. Abstract Patients with acute hepatic porphyria are denied essential operations because of concern that general anaesthesia and surgery will precipitate a life threatening porphyric crisis.[…][ncbi.nlm.nih.gov]
Porphyria Types Urine can have this appearance during an attack or upon standing in the light. This is one of the hereditary hepatic porphyrias. Its inheritance is autosomal dominant. The deficient enzyme is porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane synthase. This enzyme was formerly known[…][web.archive.org]