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Biomedical subjects

C K Janniger

Publications and source records attributed to C K Janniger.

At least 37 records · Page 2Linked to original sources

Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance.

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by widespread cutaneous and visceral hamartomas. METHODS: The prevalence of cutaneous lesions in 106 children with TSC (47 boys and 59 girls) aged 1 month-18 years was evaluated from 1984 to 1995. Assessing the diagnostic usefulness of each National Tuberous Sclerosis Association skin criterion was an aim of this study. RESULTS: Hypopigmented macules were the most frequent finding, seen in 103 of 106 children (97.2%). In 66 children they were evident at birth, and in 20 others their presentation was delayed until the first months of age. Facial angiofibromas were seen next most often (79 of 103, 74.5%), followed by a shagreen patch in 51 of 103 (48.1%), "cafe-au-lait" macules in 30 of 103 (28.3%), molluscum fibrosum pendulum (24 of 103, 22.6%), a forehead fibrous plaque (20 of 103, 18.9%), periungual fibromas (16 of 103, 15.1%) and "confetti-like" macules (3 of 103, 2.8%). The hypomelanotic macules were seen within the first 2 years of life in 95 children, as were café-au-lait spots in 24, facial angiofibromas in eight, shagreen patches in six, and forehead fibrous plaques in six, whereas molluscum pendulum and periungual fibromas were not evident. Seizures were seen in 102 of 106 children (98%), with 80 (75%) occurring during the first year of life. CONCLUSIONS: Hypomelanotic macules were the overwhelmingly most common early finding in TSC. Infants with seizures or other possible stigmata of TSC should be carefully evaluated for these hypomelanotic macules, as well as for other associated findings.

Adolescent↗

Pityriasis alba.

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Adolescent↗

Zinc deficiency in exclusively breast-fed infants.

Zinc deficiency in breast-fed infants is an important disorder. Unlike acrodermatitis enteropathica, it is transient and stops when nursing ends. We report two cases of premature infants, breast-fed only, who showed skin lesions resembling acrodermatitis enteropathica. Results of laboratory investigations revealed a lowered zinc level in the infants' serum and in the mothers' milk and a normal level of zinc in the mothers' serum. After the infants were given zinc supplements and their diets diversified, the skin lesions regressed and their serum zinc levels became normal.

Adult↗

Bacillary angiomatosis: presentation of six patients, some with unusual features.

Bacillary angiomatosis (BA) is an unusual systemic vascular proliferation seen predominantly in patients with the acquired immunodeficiency syndrome. These vascular lesions are probably due to infection with a Bartonella species, most often B. henselae and, in some patients, B. quintana. BA is treatable and often curable, but without therapy, may be life-threatening. Clinically, the lesions, when superficial, are said to often resemble pyogenic granulomas, appearing polypoid histologically with an epidermal collarette. We now report six patients, three of whom showed lesions of BA morphologically and histologically distinct from the other patients reported to date. Two patients lesions appeared clinically as violaceous plaques and tumours resembling Kaposi's sarcoma; one of them had lesions histologically reminiscent of a papular angiokeratoma; and the other had lesions histologically suggestive of a combination of Kaposi's sarcoma and BA. Another patient presented with soft subcutaneous nodules which histologically showed extensive acute inflammation characteristic of an acute abscess, but which also displayed proliferating dilated small blood vessels with bulbous endothelial cells adjacent to numerous bacteria and also containing them. The Grocott-methenamine silver stain and the Warthin-Starry stain showed the organisms to better advantage in lesions of all six patients, although bacteria were also evident with the haematoxylin and eosin, periodic acid-Schiff and alcian blue stains.

AIDS-Related Opportunistic Infections↗

Alopecia areata.

Alopecia areata is a frequent and physiologically compelling form of hair loss. It is most common in children and young adults, but can affect people of any age. Although it is usually limited to patches on the scalp, it may involve the entire scalp and other hair-bearing regions of the body. It may be associated with autoimmune disorders, especially of the thyroid. Its effective treatment often poses a difficult challenge.

Adolescent↗

Klippel-Trenaunay-Weber syndrome.

The Klippel-Trenaunay-Weber syndrome is characterized by the triad of a port-wine stain, varicose veins, and bony and soft-tissue hypertrophy of an extremity. Recognition is usually possible during infancy or early childhood, and evaluation and treatment is important because morbidity may be minimized. We will review the clinical features, etiology, assessment, and treatment of patients with Klippel-Trenaunay-Weber syndrome.

Combined Modality Therapy↗

Vitiligo.

Vitiligo is a common disorder afflicting people of all ages around the world. It produces milky white patches of depigmentation that cause significant morbidity due to cosmetic disfigurement. One should distinguish segmental from nonsegmental vitiligo, and be aware the latter is associated with an extremely small risk of associated autoimmune disorders. New therapeutic options offer some additional hope to patients with vitiligo, but more progress in the understanding of its pathogenesis and therapy is still needed.

Adolescent↗

Onychomycosis.

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Diagnosis, Differential↗