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entity under the rubric of acute febrile mucocutaneous lymph node syndrome, a designation that has more recently been superseded by the eponym Kawasaki syndrome.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.     

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.     

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.     

PAPULAR-PURPURIC GLOVES-AND-SOCKS SYNDROME

Background and Objective. Papular-purpuric gloves-and-socks syndrome (PPGSS) is a recently described dermatosis in which human parvovirus B19 (HPV B19) has been implicated as etiologic agent; however, it is suspected that PPGSS may be caused by various agents. This study was designed to survey the general characteristics of PPGSS and to determine the role of HPV B19 in its etiology. Methods. We analyzed data from 21 patients and examined serum samples from three new cases for various viruses. Results. The PPGSS displays a striking uniform clinical pattern. Histologic and immunofluorescence findings are nonspecific. Seroconversion of HPV B19 was reported in six cases and confirmed in two of our patients. In only one case was a possible causative role of Coxsackie virus B6 suggested consistently. Conclusions. The PPGSS represents a distinctive dermatosis and a manifestation of HPV B19 infection. Unlike erythema infectiosum, anti-HPV B19 antibodies seem to develop later after onset of the skin eruption and while viremia is still present.     

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.