No Abstract Available.
Hypopigmentation*

No abstract available.
Hypopigmentation*

Mycosis fungoides presenting with hypopigmented lesions is an uncommon variant, which is usually described among dark-skinned patients. We report a case of hypopigmented mycosis fungoides in an eight-year-old girl who has responded favorably to narrowband-ultraviolet B therapy. The disease mimics several benign inflammatory skin conditions, hence, a high clinical suspicion is warranted in patients presenting with widespread hypopigmentation.

Human ; Female ; Child ; Albinism, Oculocutaneous ; Hypopigmentation ; Mycosis Fungoides ; Skin ; Lymphoma

Chediak-Higashi syndrome is a rare autosomal recessive disease characterized by partial oculocutaneous albinism, photophobia, nystagmus, immunodeficiency with increased susceptibility to bacterial and viral infection. We experienced a 2-year old boy who presents photophobia, hypopigmentation of retinal pigment epithelium, partial cutaneous albinism, systemic findings including recurrent fever and respiratory infection, hepatosplenomegaly and pathognomic giant cytoplasmic granules in peripheral blood cells and bone marrow, and diagnosed it as a Chediak-Higashi syndrome. We present our experience of Chediak-Higashi syndrome with brief review of the literatures related to it.
Albinism, Oculocutaneous ; Blood Cells ; Bone Marrow ; Chediak-Higashi Syndrome* ; Child, Preschool ; Cytoplasmic Granules ; Fever ; Humans ; Hypopigmentation ; Male ; Photophobia ; Piebaldism ; Retinal Pigment Epithelium

No abstract available.
Choroid ; Hypopigmentation ; Vitiligo

Oculocutaneous albinism (OCA) is a group of inherited disorders of the melanin synthesizing system, and these are characterized by hypopigmentation of the hair, skin and eyes, with a normal number of melanocytes. The defect of melanin biosynthesis is caused by genetic mutation of such enzymes as tyrosinase (TYR), and tyrosinase-related protein (TYRP), which affect tyrosine convert to melanin pigment. There are at least four types of OCA from OCA1 to OCA4. The different types of OCA are caused by mutations in different genes. The most severe form, OCA1A, is distinguishable from other forms owing to a complete lack of melanin pigment throughout the patient's whole life. But among other types, except OCA1A, it is hard to identify the correct type according to only the clinical findings because their clinical phenotypes usually overlap. Therefore, molecular study is a useful tool for the typing and diagnosis of OCA. We experienced a case of a 10-month-old male toddler who has pale skin, straw-colored hair, nystagmus and visible choroidal vessels. Under the clinical impression of OCA, the correct subtyping was made on the basis of genetic analysis of the chromosomes and we found a new TYR gene frame-shift mutation.
Albinism, Oculocutaneous ; Choroid ; Eye ; Hair ; Humans ; Hypopigmentation ; Infant ; Male ; Melanins ; Melanocytes ; Monophenol Monooxygenase ; Phenotype ; Skin ; Tyrosine

Albinism is a hereditary disease caused by the defect of tyrosinase that converts tyrosine to dihydroxyphenylalanine (DOPA). `Oculocutaneous albinism' is classified as hypopigmentation of skin, hair and eyes, but incidences of `ocular albinism' where hypopigmentation is limited to eyes are found rarely. Biochemically, albinism is caused by the tyrosinase activity. Typical findings in oculocutaneous albinism include not only ophthalmologic problems such as hypopigmentation of skin, foveal hypoplasia, photophobia and decreased visual acuity but also congenital nystagmus. We cannot determine distinctive characteristics of nystagmus of albinism because domestically, there are only a few reports that have been recorded correctly about nystagmus of albinism. Merely, we present our experience of two cases of albinism with congenital nystagmus because we think that these two cases, showing different types of nystagmus and electronystagmography, stand for the two representative types of nystagmus found in the literature up to date.
Albinism ; Albinism, Oculocutaneous* ; Dihydroxyphenylalanine ; Electronystagmography ; Genetic Diseases, Inborn ; Hair ; Hypopigmentation ; Incidence ; Monophenol Monooxygenase ; Nystagmus, Congenital* ; Photophobia ; Skin ; Tyrosine ; Visual Acuity

OBJECTIVETo identify the mutations of the tyrosinase gene (TYR) and P gene in patients with oculocutaneous albinism (OCA).

METHODSPolymerase chain reaction (PCR) and denaturing high performance liquid chromatography (DHPLC) were applied to detect the mutations in all exons of TYR gene and P gene. Then DNA sequencing and restriction endonuclease analysis were used to confirm the mutations detected by DHPLC. Novel mutations were screened in 100 unrelated persons with normal phenotypes to exclude the possibility of polymorphism.

RESULTSTwo mutations were detected in the P gene of the three patients and none in TYR gene. Heterozygous mutation of T450M in exon 13 of the P gene was detected in patient 1. Patient 2 had a heterozygous mutation of T450M in exon 13 and a heterozygous mutation of G775R in exon 23 of the P gene. Patient 3 had a heterozygous mutation of G775R as well. Restriction endonuclease analysis of the P gene exon 13 showed that the Oli I site had partly disappeared resulting from the heterozygous mutation T450M in patient 1 and patient 2, but not in 100 unrelated individuals. The heterozygous mutation T450M is a novel mutation.

CONCLUSIONGene diagnosis of OCA can be carried out effectively by combining PCR, DHPLC, DNA sequencing and restriction endonuclease analysis.

Albinism, Oculocutaneous ; genetics ; Base Sequence ; Catechol Oxidase ; genetics ; Child, Preschool ; DNA Mutational Analysis ; Exons ; genetics ; Female ; Hermanski-Pudlak Syndrome ; genetics ; Humans ; Monophenol Monooxygenase ; genetics ; Mutation ; Young Adult

Oculocutaneous albinism resulting from genetic defect of melanin synthesizing system is characterized by pale skin, straw-colored hair, hypopigmentation of the iris, hypoplasia of fovea, photophobia, low visual acuity and strabismus. In general, oculocutaneous albinism can be distinguished by its clinical feature and hair follicle incubation test but should be diagnosed by electron microscopic findings of the skin which is exposed to sunlight. We experienced a case of 6-year-old female oculocutaneous albinism that showed clinical typical features and was diagnosed through electron microscopic finding of many immature melanosomes of the skin in the back of the hand. We report this unusual case with literature review.
Albinism, Oculocutaneous* ; Child ; Female ; Hair ; Hair Follicle ; Hand ; Humans ; Hypopigmentation ; Iris ; Melanins ; Melanosomes ; Photophobia ; Skin ; Strabismus ; Sunlight ; Visual Acuity

No abstract available.
Hypopigmentation ; Lichens