OCULO-AURICULO-VERTEBRAL SYNDROME (GOLDENHAR''S SYNDROME)

Oculo-auriculo-vertebral syndrome (Goldenhar's syndrome) was found in a 10-month-old boy who had epibulbar dermoids, colobomata, pre-auricular skin tags, and hypomandibulosis.     

AUTDERYTHROCYTE SEXSITIZATION SYNDROME (PAINFUL BRUISING SYNDROME)

SUMMARY.— Autoerythrocyte sensitization syndrome (painful bruising syndrome) is a chronic purpuric cutaneous disease of women, characterized by localized painful inflammatory swellings which in a few hr. develop into painful ecchymoses. Some patients also have systemic manifestations: psychiatric and neurological symptoms, abdominal pain, and genito-urinary and gastrointestinal bleeding, in that order of prevalence.
Histological examination shows an intense vasculitis. Ecchymoses can occur spontaneously, particularly with emotional stress and after mild trauma. The haematological and blood clotting pictures are normal. Intradermal injection of erythrocytes or red cell stroma reproduces the spontaneous lesion.
Two patients with this syndrome are presented. In both, typical ecchymotic reactions were induced by the injection of erythrocytes, in one a similar response could be provoked with phosphatidyl L-serine.
The literature is reviewed in detail and the possible pathogenesis of the syndrome is discussed.     

KAWASAKI SYNDROME

Kawasaki syndrome is an acute multisystem inflammatory disease of young children first described by Tomasaku Kawasaki in the Japanese literature in 1967. He reported 50 cases of this entity under the rubric of acute febrile mucocutaneous lymph node syndrome, a designation that has more recently been superseded by the eponym Kawasaki syndrome. The disorder was further delineated and brought to the attention of American pediatricians in 1974. Recognition of the syndrome followed rapidly, and Melish, Hicks and Larson published the first series of American cases from Hawaii in 1976. Subsequently, Kawasaki syndrome has been documented worldwide. Although the disorder is known to be a systemic vasculitis with predilection for the coronary arteries, the etiology has remained obscure despite intense investigative efforts.     

OLMSTED SYNDROME

Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child''s mobility after that stage.     

PAPILLON-LEFEVRE SYNDROME

Two cases of Papillon-Lefevre Syndrome (PLS) in a family are reported. Association of recurrent infections, arachnodactyly, intracranial calcification and phalangeal abnormality have been observed. Because there is no history of consanguinity, and autosomal recessive pattern of inheritance is suggested.     

BART'S SYNDROME

A new-born girl presented with congenital absence of skin on the right leg and nail abnormalities. On second day of life, she developed multiple blistering skin lesions and died on seventeenth day of life. A positive family history of two other siblings, one male and one female who had blistering skin lesions and died within one and a half month of birth, was present. The diagnosis of Bart''s syndrome was made on clinical presentation, family history and skin biopsy.     

TRICHO-RHINO-PHALANGEAL SYNDROME

The major characteristics of tricho-rhino-phalangeal syndrome (TRPS) include shortened and deviated digits, a typical facies with a pear-shaped nose, a long philtrum and slow-growing, fine, sparse hair. Cone-shaped digital epiphyses are seen on x-ray. A few patients with TRPS are mentally retarded. Associated endocrine abnormalities have been reported. Autosomal dominant and recessive patterns of inheritance have been described with most cases showing a dominant mode of inheritance.     

SYNDROME IN QUESTION

The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis. On the antero-posterior image, radiologic examination reveals a narrowing of the distal phalanx. The lateral image shows a Y-shaped bifurcation of the distal phalanx. We report a case of a patient with typical clinical and radiologic signs of Iso-Kikuchi Syndrome.     

BURNING MOUTH SYNDROME

Background and Objectives. Burning mouth syndrome (BMS) is a frequent process that produces marked oral dysesthetic symptoms. There is controversy over its etiopathogenesis and diagnosis. Therapeutic results are unsatisfactory. The objectives of this study were: (1) to analyze a possible agreement on the definition of BMS; (2) to analyze its cause; (3) to propose a therapeutic scheme that has been shown to be highly effective in our experience and has not been previously reported. Methods. Five hundred patients with symptomatology of BMS were retrospectively evaluated with a study protocol, specially designed for this disease. Patients with local or general disease processes that could cause secondary asymptomatic stomatodynia were excluded from the study. Results. Most of the patients evaluated were women over 60 years of age with oral symptoms, including a sensation of heat and burning, and pain, lasting for months or years, and a history of multiple unsuccessful treatments. The patients showed depression associated with anxiety, with evidence of psychiatric disorders in the family. Based on these findings and eliminating symptomatic painful conditions of the mouth that may simulate this syndrome, we diagnosed a genuine or basic BMS of psychosomatic origin. Therapies used in the treatment of these neurotic conditions were not always useful. Tranylcypromine associated with anxiolytics and hypnotics in low doses plus the support of psychotherapy by the stomatologist were the most effective treatments. Conclusions. The BMS should be defined as a psychosomatic process causing oral dysesthesias for months or years.