Note: A multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, psammomatous melanotic schwannomas and other tumors. Inheritance: A genetically heterogeneous autosomal dominant disorder with high penetrance for CNC1 (penetrance for CNC1 due to PRKARIA defects is close to 100%); this estimate of penetrance does not apply to kindreds wit...

.

Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigmentation, delayed development, facial dysmorphism,...

Melasma is a chronic skin disorder that results in symmetrical, blotchy, brownish facial pigmentation. It is more common in women than in men, it generally starts between 20 and 40 years, and it can lead to considerable embarrassment and distress. The aims of this article is to evaluate the treatment with the microneedling method in 18 female and 4 male with recalcitrant melasma. All patients d...

Dyskeratosis congenita (DC) is a rare, inheritable disorder characterized by a triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Inheritance is mainly X-linked recessive; however, autosomal dominant and recessive forms have also been reported. Here, we report two cases of DC with distinct clinical presentations together with different genetic screening results, which ...

OCULAR DISORDERS choroidoretinal defects choroidal coloboma, retinal coloboma, macular coloboma, retinal pigmentation changes, retinal flecks corneal defects not including dystrophy microphthalmos (anteposterior globe diameter less than 20 mm, in adult), anophthalmos eye, motility defects nystagmus strabismus convergent, esotropia, misalignment of the visual axes of the eyes eyelids, anomalies ...

introduction: diode laser irradiation has recently shown promising results for treatment of gingival pigmentation. this study sought to compare the efficacy of 2 diode laser irradiation protocols for treatment of gingival pigmentations, namely the conventional method and the sieve method. methods: in this split-mouth clinical trial, 15 patients with gingival pigmentation were selected and their...

Dyskeratosis congenita (DC) is a rare hereditary disorder characterized by bone marrow failure, cancer predisposition (11-fold increase compared to general population), ectodermal dysplasia (nail dystrophy, oral leukoplakia, and abnormal skin pigmentation) and other additional somatic abnormalities. A 22-year-old man presented with fever, chills, and a painful throat. Leukoplakia was noted on h...

The term “Oro-facial pigmentation” refers to a wide range of lesions or conditions featuring a change of color of Oro-facial tissues. Pigmentation of the Orofacial tissues is seen in certain races or ethnic groups such as Indians, Africans and Europeans. Broadly classifying, Oro-facial pigmentation is divided into endogenous pigmentation and exogenous pigmentation. Endogenous pigmentation is du...