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Biomedical subjects

J H Smitt

Publications and source records attributed to J H Smitt.

15 recordsLinked to original sources
PubMed2001

[Two neonates with vesicular skin lesions due to incontinentia pigmenti].

In two neonate girls with vesicular skin lesions, incontinentia pigmenti (Bloch-Sulzberger syndrome) was diagnosed. This rare X-linked dominant ectodermal disease can cause abnormalities in several organ systems. Most prominent are the dermatological abnormalities, developing in 4 stages: the vesicular stage, the verrucous stage, the hyperpigmentation phase, and the atrophic phase. In addition to the cutaneous manifestations, many patients have anomalies of nails, hair and teeth. Serious related abnormalities of the eyes (intraocular vasculopathy) and central nervous system (convulsions, mental retardation) may occur. In 1989 the locus for the incontinentia pigmenti mutation was shown to be present on Xq28. Recently it was shown that the causative mutation is located on the NEMO ('NF-kappa B essential modulator') gene. A NEMO knock-out mouse model shows a dermatopathy of a transient nature, resembling the skin lesions in patients with incontinentia pigmenti.

Diagnosis, Differential↗
PubMed2001

[Acute hemorrhagic edema of childhood and its differentiation from Schoenlein-Henoch purpura].

In two young patients with an elevated temperature, a girl aged 6 months and a boy aged 10 months, purpura and oedema were noticed on the face, ears, arms and legs. On one occasion the boy lost blood anally. A histopathological examination revealed leucocytoclastic vasculitis with fibrin deposits. The diagnosis was 'acute haemorrhagic oedema of infancy' (AHOI), a relatively unknown variant of palpable purpura due to leucocytoclastic vasculitis affecting infants and young children (up to two years of age). AHOI is characterised clinically by marked oedema and fever as well as large palpable purpuric and ecchymotic skin lesions in a target-like pattern mainly on the face, ears and extremities. The skin lesions heal spontaneously within one to three weeks and internal organs are rarely affected. This is in contrast to Henoch-Schönlein purpura, which was observed in a 5-year old boy suffering from similar skin lesions on the legs as well as painful joints, in whom IgA deposits were found in the vasculitis. Henoch-Schönlein purpura is clinically characterised by palpable purpura on the extensor surfaces of the legs and on the buttocks, whereas in AHOI larger purpura and ecchymoses are found on the face, ankles and wrists, with far more extensive oedema. There are also histological differences: in AHOI there is more extensive vasculitis with fibrin deposits and IgA deposits are seen in a minority of cases. Awareness of this relatively unknown form of leucocytoclastic vasculitis will assist in making an early diagnosis possible, thereby avoiding unnecessary treatment and concern.

Acute Disease↗
PubMed1998

Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology.

BACKGROUND: This study describes 12 cases of restrictive dermopathy seen during a period of 8 years by the Dutch Task Force on Genodermatology. We present these unique consecutive cases to provide more insight into the clinical picture and pathogenesis of the disease. OBSERVATIONS: Clinical features in more than 85% of these children were prematurity, fixed facial expression, micrognathia, mouth in O position, rigid and tense skin with erosions and denudations, and multiple joint contractures. Ten patients underwent histopathologic skin biopsy. The biopsy results showed flattening of rete ridges in all 10 patients, a thin dermis with collagen aligned parallel to the epidermis in 9 patients, and poorly developed dermal appendages in 9 patients. Additional findings in individual patients included blepharophimosis, inguinal skin tear, skin tear in the frontal neck area that developed during delivery, absent eyelashes, a wide ascendent aorta, and dextrocardia. Fibroblast cultures taken from 5 patients did not show abnormal alpha 2 beta 1 and alpha 1 beta 1 integrin expressions. CONCLUSIONS: The alleged rarity of restrictive dermopathy may be partially caused by medical unfamiliarity with this entity, despite its characteristic clinical and histopathologic picture. The pathogenesis of the disease still needs to be elucidated.

Abnormalities, Multiple↗
PubMed1992

Reappearance of vanished bile ducts.

A 36-year-old Surinam woman with a severe form of toxic epidermal necrolysis of unknown origin is presented. Skin lesions healed gradually without scarring within 3 to 4 weeks, but eye lesions progressed to symblepharon and corneal opacification, resulting in almost complete blindness. In addition, toxic epidermal necrolysis was associated with severe intrahepatic cholestasis caused by vanished bile duct syndrome; viral hepatitis, primary biliary cirrhosis and primary sclerosing cholangitis were excluded. After about six months, intrahepatic chole-stasis improved spontaneously and a third liver biopsy taken after 51 weeks of illness revealed that the bile ducts had reappeared. At present, the patient is relatively well, with no jaundice, although parameters of cholestasis are still elevated: Alkaline phosphatase three times, and gamma GT thirty times the normal values. This sequence of events has to our knowledge never been reported in the literature.

Adult↗
PubMed1989

Allergic contact dermatitis in children and young adults.

We evaluated the results of a 5-year period of epicutaneous testing in children and teenagers younger than 16 years of age. In an overall-tested population of 2671 persons, 67 were younger than 16 years. In 16 (23.8%) of these 67 children, a positive epicutaneous test was considered to be clinically relevant for the diagnosis allergic contact dermatitis. From the total of 44 positive tests, the most common allergen was nickel sulfate (18%), followed by balsam of Peru, Carba mix, colophony, and fragrance mix (6% each). As our test population consisted of only a few children, no conclusions were drawn in respect to children younger than 10 years. Despite our careful selection of children with allergic contact dermatitis, the prevalence of positive epicutaneous tests was no different than that reported for unselected populations of children.

Adolescent↗
PubMed1987

Sensory loss following cryosurgery of skin lesions.

Sensory testing by means of a graded bristle technique was performed following cryosurgical treatment of 183 skin lesions in 169 patients. Mild, generally transient, sensory loss was found in 28% of the treated lesions. This sensory loss appeared not to be influenced by differences in the cryosurgical procedures nor by postoperative complications in wound healing, but was dependent on the area of the body where cryosurgery was performed. Treated lesions on the trunk and neck and on the arms and legs showed the most profound and longest lasting sensory loss.

Cryosurgery↗
PubMed1981

Sensitization to olive oil (olea europeae).

Sensitization to olive oil is seldom reported in the literature. By use of epicutaneous tests a delayed type of hypersensitivity to pure freshly-prepared olive oil could be demonstrated in two patients. Patch tests with certain major constituents of olive oil; the methyl ester of linoleic acid, the glyceryl ester of palmitic acid, the glyceryl ester of stearic acid, glyceryl trioleate and glycerids of arachidic acid, appeared to be negative. In one patient a weak reaction to balsam of Peru was found. It is concluded that sensitization to olive oil must be taken into consideration, especially when it is used as a vehicle in patch testing.

Aged↗
PubMedDate not supplied

Epidermal nevus syndrome with isolated enlargement of one temporal lobe: a case report.

A 5-month-old girl presented with infantile spasms and psychomotor retardation. She was born with epidermal nevi on the right side of the head, the right arm and the back. MRI of the head showed a right hemimegalencephaly limited to the temporal lobe. There were no MRI signs of neocortical dysplasia. Ultrasonography revealed multiple cysts in both ovaria and a small solid lesion in the left adrenal gland. Hemimegalencephaly represents an overgrowth phenomenon; the isolated temporal lobe hypertrophy can be explained as a mild expression of hemimegalencephaly. To our knowledge this has not been described before.

Adrenal Gland Neoplasms↗