phenylephrine-hydrochloride and Hypotrichosis

Alopecia present from birth includes a broad differential diagnosis and often represents a diagnostic and therapeutic challenge for the involved physician.. An initial correct diagnosis and classification is essential because structural hair defects may be the expression of a genetic disorder affecting hair growth, part of a congenital syndrome with accompanying hair malformations, or a marker for an underlying metabolic disorder and may impact the mental and physical development of a child. Pathological hair loss rarely occurs in the first year of life; however, it may be a leading symptom of many congenital diseases.. In recent years, the clinical and microscopic features of hereditary hair shaft disorders have been characterized and classified. Furthermore, significant progress has been made in our knowledge of genes that control the normal development and differentiation of hair follicles, and thus the research is to define and classify the hair disorders within a genetic basis.. In this article we discuss several types of genotrichosis and provide a practical classification based on their clinical features.

Topics: Alopecia; Aneurysm; Carcinoma, Basal Cell; Child; Cleft Lip; Cleft Palate; Deafness; Ectodermal Dysplasia; Eczema; Facies; Fingers; Growth Disorders; Hair Diseases; Hallermann's Syndrome; Histiocytoma, Benign Fibrous; Humans; Hypotrichosis; Ichthyosis; Intellectual Disability; Keratitis; Langer-Giedion Syndrome; Microcephaly; Nose; Skin Diseases, Genetic; Skin Neoplasms

Topics: Abnormalities, Multiple; Child, Preschool; Codon, Nonsense; DNA-Binding Proteins; Female; Fingers; Humans; Hypotrichosis; Nose; Repressor Proteins; Transcription Factors; Vesico-Ureteral Reflux

The trichorhinophalangeal syndrome (TRPS) is a hereditary, skeletal dysplasia which has a characteristic clinical presentation and is classified in types 1, 2 and 3, based on phenotype and genotype. Typical findings may be mild and many patients probably remain undiagnosed.. The paper is based on four case reports and provides a short review of the condition.. Our four patients all have typical facial features, such as a large nose and thin upper lip, thin hair and short curved fingers with characteristic radiological findings. The condition is autosomal dominant and caused by a mutation in the TRPS1 gene, which codes a gene-regulating protein involved in development of hair and modulation of chondrocytes. The diagnosis can be based on clinical findings, but DNA-analysis can be of help in unclear situations. Two of our patients were diagnosed from clinical and radiological findings, but for the two others genetic examinations were done as well. There is no causal treatment, but the diagnosis can give patients an explanation of their problems, and genetic counseling for the patient and family can be offered. Orthopedic surgery and cosmetic aids are valuable for many.. In an increasingly technified medical daily life, the clinical view is still the most important tool in diagnosing patients with this condition.

Topics: Abnormalities, Multiple; Adolescent; Child; Child, Preschool; Craniofacial Abnormalities; Female; Fingers; Genetic Counseling; Hair Diseases; Hand Deformities, Congenital; Humans; Hypotrichosis; Langer-Giedion Syndrome; Nose

Trichorhinophalangeal syndrome has three characteristic signs: slow-growing hair, pearshaped nose with high philtrum and bradyphalangia with wedge-shaped epiphyses. We report two familial cases of type I trichorhinophalangeal syndrome. Our aim was to better identify the hair anomalies. A 22-year-old boy and his 65-year-old mother had thin sparse hair with recessed fronto-temporo-occipital hair lines. The trichogramme of the occipital region showed 52% dystrophic roots and 48% telogenic roots. Polarized light revealed monochromal hair with clear << finger-end >> rhexis. Electron scan microscopy showed thin, oval, flat or cannulated hairs and folded cuticle cells. A transverse zone in the prerhexis area had no cuticle cells and << finger-end >> fractures. Histological examination showed a normal follicle count. Sebaceous and sudoriparous glands were normal. Other characteristics of trichorhinophalangeal syndrome (facial deformity with pear-shaped nose with high philtrum, clinobrachydactylia of the fingers and toes, and radiologically wedge-shaped epiphyses) were also noted. Caryotypes were normal. We emphasize the importance of folded cuticle cells and clear rhexis leading to << finger-end >> fractures. These anomalies could serve as markers in cases with few suggestive signs.

Topics: Abnormalities, Multiple; Adult; Aged; Epiphyses; Female; Fingers; Hair; Hand Deformities, Congenital; Humans; Hypotrichosis; Male; Microscopy, Electron, Scanning; Nose; Syndrome

We report a 19-year-old boy with an interstitial deletion of the long arm of chromosome 8 (46, XY, del(8)(pter----q23.3: :q24.13----qter)). He shows the typical clinical symptoms of tricho-rhino-phalangeal syndrome (TRPI) and severe mental retardation, however without multiple exostoses. This is the second report of a combination of abnormalities and interstitial deletion of 8q.

Topics: Adult; Chromosome Deletion; Chromosomes, Human, Pair 8; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Hypotrichosis; Intellectual Disability; Male; Nose; Syndrome

A solitary case of Trichorhinophalangeal syndrome type I is described. Scanning electron microscopic examination revealed alterations of the cuticular pattern and hair shaft structure. These alterations have not been previously described and differ from those seen in other syndromes belonging to the group of the ectodermal dysplasias e.g. the Trichoonytic Hidrotic ectodermal dysplasia, autosomal recessive Anhidrotic ectodermal dysplasia and X-linked Anhidrotic ectodermal dysplasia.

Topics: Adult; Alopecia; Female; Fingers; Hair; Humans; Hypotrichosis; Nose; Syndrome

Topics: Adolescent; Alopecia; Epiphyses; Fingers; Humans; Hypotrichosis; Male; Nose; Pedigree; Syndrome

Three cases of the Tricho-rhyno-phalangeal syndrome (TRF) are described. Two cases were in the same family with some affected membres (Camacho et al., 1978). The third case, of sporadic presentation, showed radiological signs of Perthes' disease. All cases presented the main clinic and radiologic alterations of the TRF syndrome: hypotrichia, pear-shaped nose and cone shaped epiphyses. Some of them presented other characteristic features such as: darwism, prominent nose, elonged philtrum, thin upper lip, baldness of the external 1/2 eyebrows, prominent ears of low implantation, shortening of some fingers (of metacarpals and metatarsal), onicodystrophy, etc. The differential diagnosis must be stablished with: a) congenital processes which present facial abnormalities, specially of the nose, b) congenital atrichias o hypotrichias associated to osteoarticular troubles of the growth and c) congenital syndromes with epiphyses in cone (peripheric dysostosis). Finally, we find, by scanning electron microscope studies, an increase of the cuticular cells in detachment, an inespecific sign that denotes a special lability of these patients' hair to the action of the outside agents on it.

Topics: Adolescent; Adult; Alopecia; Bone Diseases, Developmental; Child, Preschool; Diagnosis, Differential; Epiphyses; Female; Humans; Hypotrichosis; Male; Nose; Pedigree; Syndrome

Topics: Abnormalities, Multiple; Child; Exostoses, Multiple Hereditary; Hand Deformities, Congenital; Humans; Hypotrichosis; Intellectual Disability; Male; Nose; Syndrome

Topics: Alopecia; Child; Femur Head Necrosis; Fingers; Humans; Hypotrichosis; Male; Nose; Osteochondritis; Spondylolisthesis; Syndrome

In a family 4 cases of the tricho-rhino-phalangeal sydrome are observed. The sparse hair and early baldness, the pearshaped nose, and the peripheral dysostosis are typical in the appearance of these patients. Congenital heart leasions and kidney disease, as in one of out patients, might be associated with the tricho-rhino-phalangeal syndrome.

Topics: Abnormalities, Multiple; Alopecia; Child; Child, Preschool; Fingers; Humans; Hypotrichosis; Male; Nose; Pedigree; Syndrome