phenylephrine-hydrochloride and Hypertrichosis

Topics: Aged; Carcinoma, Basal Cell; Dermoscopy; Eflornithine; Esthetics; Female; Forehead; Hair; Humans; Hypertrichosis; Mohs Surgery; Nose; Nose Neoplasms; Postoperative Complications; Rhinoplasty; Skin Cream; Surgical Flaps; Treatment Outcome

Gorlin-Chaudhry-Moss syndrome (OMIM 233500) is a rare congenital malformation syndrome with the cardinal manifestations of craniofacial dysostosis, hypertrichosis, underdeveloped genitalia, ocular, and dental anomalies. Since 1960, only six affected individuals have been reported. We report a 4-year and 6-month-old female patient with this phenotype and review the clinical presentation of all patients known so far. Previously unreported malformations of the extremities, larynx, and nose are also described, expanding the phenotype of this rare syndrome. Array-CGH analysis did not show pathological deletions or duplications.

Topics: Abnormalities, Multiple; Child, Preschool; Chromosomes, Human, Pair 12; Craniofacial Abnormalities; DNA Copy Number Variations; Ductus Arteriosus, Patent; Female; Growth Disorders; Hand Deformities, Congenital; Humans; Hypertrichosis; Infant; Larynx; Nose; Phenotype; Progeria; Toes

We report on a father to daughter transmission of Barber-Say syndrome (BSS), a rare, congenital disorder characterized by severe generalized hypertrichosis, macrostomia, ocular telecanthus, bulbous nose and atrophic skin. These two cases further support the autosomal dominant inheritance. Both presented with the typical BSS symptoms but the phenotypic expression in the father was milder. Treatment is challenging for both patients and doctors, requiring a multidisciplinary approach.

Topics: Abnormalities, Multiple; Adult; Atrophy; Child; Eye Diseases; Eyelids; Female; Humans; Hypertrichosis; Karyotyping; Macrostomia; Male; Nose; Skin; Syndrome

Topics: Adenocarcinoma; Aged; Antineoplastic Agents; Female; Gefitinib; Humans; Hypertrichosis; Lung Neoplasms; Nose; Quinazolines

Topics: Abnormalities, Multiple; Child, Preschool; Clitoris; Diabetes Mellitus; Dwarfism; Endocrine System Diseases; Eye Abnormalities; Female; Germany, West; Heart Defects, Congenital; Humans; Hyperinsulinism; Hypertrichosis; Kidney; Lip; Nose; Ovary; Progeria

Three cases of de Lange's syndrome are described. This condition is characterized by generally severe mental retardation, reduced stature, mild microcephaly, hypertrichosis, various anomalies of hands and feet, and a peculiar facies. The most outstanding features of the latter are the low forehead, profuse, generally confluent eyebrows, abundant long eyelashes, eyes that frequently slant downwards and outwards in antimongoloid fashion, pug nose with prominent anteverted nostrils, increased distance between nose and vermilion border of upper lip, slight reduction in size of chin, and often abnormally low-placed ears. The etiology of de Lange's syndrome is at present unknown.

Topics: Adolescent; Body Height; Child; Congenital Abnormalities; De Lange Syndrome; Ear Deformities, Acquired; Ear, External; Eye; Eyebrows; Facial Expression; Hand Deformities; Hirsutism; Humans; Hypertrichosis; Intellectual Disability; Lip; Mandible; Microcephaly; Nose; Nose Deformities, Acquired