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At least 901 records · Page 50Linked to original sources
PubMed1979

A distinct variant of the Ehlers-Danlos syndrome.

Two unrelated males presented a distinct syndrome, consisting mainly of mental retardation, short stature, wrinkled facies, curly and fine hair, scanty eyebrows and eyelashes, telecanthus, periodontitis, hypermobility of the joints, hyperextensibility and fragility of the skin, multiple nevi, papiraceous scars, bruisability, varicose veins, pectus excavatum, winged scapulae, pes planus and bilateral cryptorchidism. Since some features were typical of Ehlers-Danlos Syndrome (EDS), the clinical data were analyzed comparatively with the different types of EDS. The individualization of a distinct variant is concluded. Increased paternal age at the birth of both cases suggests a de novo dominant mutation.

Adolescent↗
PubMed1991

Pigmentary dysplasias in long survivors with mosaic trisomy 18: report of two cases.

We describe two patients, a 19-year-old girl and a 19-year-old boy, with mosaic trisomy 18 and pigmentary dysplasias. Both patients had profound growth and mental retardation, marked kyphoscoliosis, bushy eyebrows, bulbous nose, simple ears, and joint contractures - clinical manifestations of long survivors with mosaic or non-mosaic trisomy 18. In addition, the boy showed total asymmetry. Pigmentary dysplasias of the skin with hypopigmented whorls and streaks, initially absent or overlooked at the ages 2 and 15 years, were detected on close examination. It is advisable to check closely every long survivor with mosaic or purportedly non-mosaic trisomy 18 for pigmentary dysplasias.

Abnormalities, Multiple↗
PubMed1992

Autosomal recessive blepharophimosis, ptosis, V-esotropia, syndactyly and short stature.

A recessively inherited syndrome of blepharophimosis and ptosis with weakness of extraocular and frontal muscles is reported in six members of three related kindreds. Prognathism, synophrys and thick eyebrows added to a typical facial appearance. Additional findings included short stature, borderline head circumference and toe syndactyly. Borderline mental retardation and anosmia were found in one patient. The clinical features and the mode of inheritance distinguish this syndrome from other blepharophimosis and ptosis syndromes.

Adolescent↗
PubMed1994

Multiple coagulation defects and the Cohen syndrome.

A 13-year-old male presented with new onset seizures, sagittal sinus thrombosis with cerebral hemorrhage, and extensive venous thrombosis of the lower limbs. Laboratory investigation demonstrated combined deficiency of protein C, protein S, and antithrombin III. He and his 17-year-old sister had a mental retardation-multiple anomaly syndrome associated with microcephaly, unusual facies, and lax connective tissue. Their dysmorphology included elongated faces with narrow forehead, arched eyebrows, large mouth with down-turned corners, malformed teeth, and furrowed tongue. Both had Marfanoid habitus with lax joints, pectus excavatum, kyphoscoliosis, and flat narrow feet. The most likely diagnosis for these siblings is the autosomal recessive Cohen syndrome of mental retardation, congenital hypotonia with Marfanoid habitus, microcephaly, pleasant affect, micrognathia, and open mouth with prominent incisors. The sagittal sinus thrombosis, left frontal intracranial hemorrhage, carotid aneurysm, tortuous descending aorta, and deep venous thrombosis suffered by the male sibling adds the Cohen syndrome to genetic vasculopathies that may be associated with stroke.

Adolescent↗
PubMed2005

Kabuki syndrome: a review.

Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a multiple malformation/mental retardation syndrome that was described initially in Japan but is now known to occur in many other ethnic groups. It is characterized by distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows with the lateral one-third dispersed or sparse, depressed nasal tip, and prominent ears), skeletal anomalies, dermatoglyphic abnormalities, short stature, and mental retardation. A number of other manifestations involving other organ systems can aid in the diagnosis and management of KS. This review will focus on the diagnostic criteria, the common and rare features of KS by organ system, and the possible etiology of this interesting condition.

Abnormalities, Multiple↗
PubMed2004

Hypotrichosis and nail dysplasia: a novel hidrotic ectodermal dysplasia.

We report a unique isolated hair and nail ectodermal dysplasia in a 3-year-old girl. Clinical examination revealed short, sparse scalp hair, absent eyebrows, short eyelashes and nail dystrophy in all digits. Nail changes included shortened nail plate with distal onycholysis and loss of the cuticle. Sweating and teeth were normal. Development was normal. Scanning electron microscopy of the hair only demonstrated trichorrhexis nodosa. There was no pili torti. Vertically sectioned scalp biopsy revealed hypoplastic hair follicles and a horizontally sectioned biopsy showed a decrease in the overall number of hair follicles present. Treatment with topical minoxidil 5% 1 mL twice each day massaged into the scalp led to only minimal improvement and was discontinued after 12 months.

Child, Preschool↗
PubMed2006

Alopecia areata masquerading as frontal fibrosing alopecia.

SUMMARY Postmenopausal women with frontal recession may represent a diagnostic challenge, as frontal fibrosing alopecia and alopecia areata may be clinically difficult to distinguish. A 53-year-old postmenopausal woman presented with a progressive fronto-temporal marginal alopecia with sparing of her eyebrows. Scalp biopsy of the affected frontal hairline revealed peribulbar lymphocytic inflammation, but no evidence of lichenoid inflammation, perifollicular fibrosis or scarring. Whereas the pathology strongly favoured alopecia areata, the clinical features overlapped with frontal fibrosing alopecia, a variant of lichen planopilaris targeting the frontal scalp. This paper presents an atypical clinical presentation of alopecia areata, which may be mistaken for frontal fibrosing alopecia.

Administration, Topical↗
PubMed1989

An adult case of psychogenic alopecia universalis.

A 39-year-old male with psychogenic alopecia universalis is reported to be a rare adult case. There are two characteristic features which are the reactive depressive state and hair loss on the head, eyebrows, axilla and genital organ. Discussions on the psychogenesis of these findings are as follows: The first is that the psychic escape from social life may be represented as the hair loss. And the second is that the depressive and anxious states as a result of his suffering from the initial alopecia areata which brought him changes in the physical image exaggerate the skin findings which lead to alopecia universalis.

Adult↗
PubMed1996

Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis.

A case of Coffin-Siris syndrome in a male of extremely low birthweight with severe kyphoscoliosis is reported. His birthweight was 965 g, the lowest reported in the world for an infant with this syndrome. Coffin-Siris syndrome is characterized by nail hypoplasia of the fingers and toes, eyebrow hypertrichosis, prominent lips and prenatal or postnatal growth retardation. He was the only case who was mechanically ventilated from birth because of birth asphyxia. He died at 12 days of age because of sepsis, a poor immune system as in other extremely low birthweight infants, and because he easily suffered from upper respiratory infection as a result of Coffin-Siris syndrome. Kyphoscoliosis is suggested as one of the important features in low birthweight cases of Coffin-Siris syndrome in previous reports and in the present case.

Abnormalities, Multiple↗
PubMed1998

Myasthenia gravis with alopecia totalis.

Myasthenia gravis was diagnosed on the basis of a positive Tensilon test in a 4-year-old male child with alopecia totalis. His scalp hair and eyebrows had began to disappear at the age of 10 months. No other physical abnormalities such as motor paralysis, were seen except for left ptosis and alopecia totalis. His serum titer of anti-acetylcholine receptor antibody was elevated. No immune system abnormalities (C3, C4, CH50, C-reactive protein, antinuclear antibody or lymphocyte function disorders) were detected. Although alopecia areata and alopecia totalis are sometimes present in adults with autoimmune diseases and myasthenia gravis, this association is rare in children. The present case represents the youngest patient with myasthenia gravis associated with alopecia totalis.

Alopecia↗
PubMed1986

Contusion injuries of the optic nerve.

Indirect trauma to the optic nerve with secondary optic atrophy may result from minor trauma and has traditionally been associated with a poor visual prognosis. The case of a 32-year-old man who suffered a blow to his left supraorbital region and eyebrow in an automatic closing door is reported to draw attention to the uncommon but trivial nature of this injury which may result in profound visual loss. He suffered an initial inferonasal visual field loss which was related to vascular changes in the optic nerve head. Over the ensuing year there was deterioration in his central vision and visual field due to arachnoiditis. Current trends in the management of optic nerve contusion injuries are discussed. There is currently a move towards primary medical management with high-dose corticosteroids as in this case; surgery is reserved for those patients who fail to respond to steroids or deteriorate as the steroid dose is reduced.

Adult↗
PubMedDate not supplied

Ophthalmology in proverbs and aphorisms.

After a comprehensive review of available texts and literature covering five millennia, the authors present a collection of ophthalmic proverbs and aphorisms with an examination of their applicability within current medical knowledge. A total of 74 ophthalmic proverbs and aphorisms were retrieved from 130 texts and divided into seven categories: (i) importance of vision ('The eyes, like sentinels, hold the highest place in the body'); (ii) definition of blindness and anatomical observations ('The eye is protected by the lashes, eyebrows, and orbit'); (iii) diseases of the eye such as presbyopia, sensitivity to light and dry eye ('Tear in the eye is jewel'); (iv) the eye as a window of the body; (v) vulnerability of the eye ('The eye cannot oppose an awl'); (vi) health behaviours and protection of sight ('Be gentle with two: women and eyes'), and finally; and (vii) nutrition and vision ('Carrots improve vision'). The majority of these proverbs and aphorisms can be used as a guide, not for prognosis, diagnosis or cure, but rather for ocular health promotion.

Aphorisms and Proverbs as Topic↗
PubMed2006

Trichotillomania +/- trichobezoar: revisited.

Trichotillomania is an intriguing psychosomatic entity in which there is an irresistible desire to pull out the hair from the scalp, eyelashes, eyebrows and other parts of the body. The process results in an instant release of tension, a sense of relief and security. However, non-scaring alopecia is its clinical presentation. The development of trichobezoar following ingestion of the pulled hair is its salient complication in a few cases. Subsequently, it may cause symptoms pertaining to the gastrointestinal tract culminating in intestinal obstruction, perforation, pancreatitis and obstructive jaundice. The Rapunzel syndrome (trichobezoar) may occur when gastrointestinal obstruction is produced by a rare manifestation of a trichobezoar with a long tail that extends to or beyond the ileocecal valve. In most cases in children, trichotillomania +/- trichobezoar is a habit disorder and thus has a better prognosis. However, in adults the psychopathology is usually deeper and thus entails a poor prognosis. The diagnosis is made after taking a thorough history, noting the clinical features and evaluating a hair-root examination, where telogen hair is (almost) completely lacking, which distinguish trichotillomania from other hair disorders. Treatment modalities vary in childhood and adult varieties. Apart from psychotherapy, the drug treatment involves several agents including selective serotonin reuptake inhibitors (SSRIs) and domipramine. Trichobezoar/Rapunzel syndrome requires surgical intervention.

Adolescent↗
PubMed1975

Cerebro-facio-thoracic dysplasia: report of three cases.

Three children, two girls and one boy, are described as suffering from a new syndrome, 'cerebro-facio-thoracic dysplasia'. The characteristic findings are mental retardation, characteristic facies, narrow forehead, bushy eyebrows with synophrys, hypertelorism, broad nose, wide philtrum, triangular-shaped mouth, short neck, marked maxillary hypoplasia, a low hairline (especially posteriorly in the midline on the neck), brachycephaly, calcified clinoid ligements, and multiple bony abnormalities in the upper thoracic vertebrae and sometimes in the cervical region, together with a variety of deformities of the upper ribs. It seems possible that the condition is hereditary and that it may be inherited as a result of an autosomal recessive trait.

Child↗
PubMed1977

Ablepheron macrostomia syndrome.

Two male children are reported with similar features, including absent eyelids, eyebrows, eyelashes and hair, fusion defects of the mouth, expressionless facies, rudimentary external ears (but normal hearing), ambiguous genitalia, absent or rudimentary nipples, coarse dry skin with redundant skin folds and delayed expressive language development. The relationship of this syndrome to previously reported cryptophthalmos syndromes is discussed.

Child↗
PubMed1980

Transplantation of single hairs from the scalp as eyelashes. Review of the literature and a case report.

Japanese dermatologists have successfully used single-hair grafts and grafts of two and three hairs for the reconstruction of eyebrows, eyelashes, pubic hair, and alopecic scars in scalps. A brief review of the Japanese literature and surgical technique is given followed by a case report of transplantation of hairs from the scalp as lashes by the author's modification of the Japanese technique.

Adult↗
PubMed1985

Management of temporal nerve injuries.

Transection of the temporal branch of the facial nerve results in paralysis of the frontalis muscle with subsequent inability to wrinkle the forehead. In addition there is ptosis of the eyebrow with upper visual field defects. The intent of this article is to outline an orderly, rational approach to the management of such injuries based on our experience with seven patients whose nerve was damaged during Mohs surgery for cancer ablation. Repair options include various combinations of direct brow-plasty, indirect temporal or coronal browlifts, and adjunctive upper lid blepharoplasty.

Basal Cell Carcinoma↗
PubMed1988

The application of the tie-down suture to the excision of cutaneous tumors.

We describe a surgical procedure that acts as a compressive dressing and contributes to eliminate dead spaces. Because of its similarity to a tie-down dressing, this technique is called the "tie-down suture." It is especially indicated after excision of mass lesions--epidermoid and dermoid cysts, steatocystomas, lipomas, hibernomas, etc.--where there are real or virtual dead spaces; in high-movement or hairy areas where compressive dressings or adhesive tapes are difficult to hold in place; and in particular, in anatomic sites such as behind the auricle, armpit, or eyebrow.

Bandages↗