Richner-Hanhart syndrome (oculocutaneous tyrosinaemia, tyrosinaemia type II)
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Biomedical subjects
Publications and source records attributed to J I Harper.
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One-hundred children with an acute illness comprising fever and widespread erythematous rash were prospectively studied to determine whether clinical presentations are helpful in defining the causative agent and to identify the most appropriate microbiological specimens. An infectious agent was identified in 65 children; 72% were viruses, 20% were bacteria, 5% were Mycoplasma pneumoniae and in 3% both viruses and bacteria were detected. The most common infectious agents were picornaviruses, an atypical presentation of measles and Group A beta-haemolytic Streptococcus. Different patterns of rash occurred with each of these infections. The clinical presentation of a child with an acute febrile illness and rash was unhelpful in defining the causative agent. Routine management should include a throat swab for bacterial investigation and in selected cases a blood sample for IgM viral titres.
An infant with congenital hypertrichosis lanuginosa (CHL) and congenital glaucoma is presented. Both conditions are rare and have not been previously reported to occur in association.
The case is reported of a female infant, who at the age of 3 months developed severe erythroderma, marked hyperkeratosis of the palms and soles and subsequently extreme growth failure and intermittent diarrhoea. Her course was complicated by life-threatening infections but detailed investigation revealed no recognized underlying metabolic or immune abnormality.
A case is reported of a male infant with congenital palmoplantar keratoderma and nail dystrophy who developed progressive perioral and perineal keratoderma. In addition, bilateral corneal epithelial dysplasia led to severe corneal scarring and impairment of vision. This syndrome has not been previously described.
Twenty-nine patients with severe atopic eczema were entered into a randomized double-blind, placebo-controlled trial of the polypeptide thymus extract, thymostimulin (TP-1). The treatment period was 10 weeks with a subsequent follow-up period of up to 1 year. Of the 18 patients receiving TP-1 and the 11 patients on the placebo, 15 and 11 patients, respectively, were fully evaluable. There was no significant difference in either clinical or immunological status between the two treatment groups at baseline. At the 3-month follow-up clinic visit there was a statistically significant difference in the total clinical score, calculated as a percentage of baseline, in favour of the TP-1-treated patients. This difference was not maintained in the subsequent follow-up period and was not accompanied by an improvement in the patient's subjective well-being. There was no significant difference between the treatment groups with respect to the immunological parameters as measured at the 3-month clinic visit.
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We describe a girl who presented at the age of 12 years with a blistering eruption on the lower limbs. One week later, numerous new bullae and blisters were present. Skin biopsy for histology and immunofluorescent studies established the diagnosis of pemphigus foliaceus.
A 4-year-old boy presented with a 6-week history of painful defaecation and faecal incontinence due to streptococcal perianal cellulitis. After treatment with a 10-day course of oral penicillin his symptoms had fully resolved. Early diagnosis and treatment of this under-recognised condition is essential.
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Using a histochemical technique, we have demonstrated a consistent deficiency of alcohol (hexanol) dehydrogenase activity within the epidermis and jejunal mucosa of patients with Sjögren-Larsson syndrome. Biochemical assay of the fatty alcohol: NAD oxidoreductase activity in cultured fibroblasts and leukocytes from these patients showed deficient activities compared with controls. The histochemical and biochemical results are complementary, and the simpler histochemical method can be used reliably for initial screening of patients with ichthyosis in whom a diagnosis of Sjögren-Larsson syndrome is suspected.
An infant with craniosynostosis and other congenital defects developed a progressive skin rash from the age of 1 month. Histological examination revealed dyskeratosis and a cornoid lamella suggestive of porokeratosis. This patient is remarkable for the early onset and severity of the skin disease.
We describe an infant who presented at birth with numerous haemorrhagic and encrusted skin lesions, hepatomegaly, lymphadenopathy, raised hepatic transaminases, leucopenia and thrombocytopenia. The diagnosis of Langerhans cell histiocytosis was confirmed by immunohistochemistry, which demonstrated the presence of CD1, S-100 and DR positive cells in the skin infiltrate. The skin lesions resolved spontaneously after 6 weeks but recurred at 3 months and again were self involuting with resolution by 9 months. Persistent circulating T-cell abnormalities, including T-cell lymphopenia and the presence and persistence of peripheral blood CD1 + cells were noted throughout the first year of life.
We describe an infant with atopic eczema, treated with homoeopathic medicines, who presented with erythema and limb oedema. Concentrations of urinary and plasma sodium and plasma albumin were low. On conventional treatment he made a satisfactory recovery.
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A female infant with failure to thrive, erythroderma and recurrent diarrhoea died at 10 months of age from a Haemophilus influenzae respiratory tract infection. Her clinical course was complicated by a persistent metabolic acidosis. Investigations revealed a low level of the fourth component of complement and reduced neutrophil mobility.
Cutis marmorata telangiectatica congenita is a rare vascular anomaly, producing a flat or depressed reticular erythema of variable extent, giving rise to a marbled effect. There is a predilection for females, and there is a frequent association with other congenital anomalies, of which a large number and variety have been described. A female neonate is reported with cutis marmorata telangiectatica congenita and two associated soft-tissue lesions on the anterior lower legs, which developed several weeks after birth. We believe these lesions, which have not been previously described, to be soft-tissue herniations with surrounding subcutaneous tissue atrophy.