[Coffin-Lowry syndrome and hyperprolinemia]. / Syndrome de Coffin-Lowry et hyperprolinémie.

BACKGROUND: The main features of the Coffin-Lowry syndrome are mental retardation and features of a peculiar pugilistic nose, large ears, tapered fingers, drumstick terminal phalanges by X-rays and kyphoscoliosis. Inheritance is probably X-linked dominant. Its early diagnosis is difficult. CASE REPORT: A 31 month-old boy was admitted for mental retardation. His weight and height were normal, but his facies showed telecanthus, anteverted nares and a prominent frontal region. His hands appeared puffy with bulbous tapering fingers. Amino-acid chromatography showed hyperprolinemia (732 mumol/l) plus iminoglycinuria. His mother had a short stature, mental retardation and similar, although minor, manifestations of the Coffin-Lowry syndrome in her face, hands and fingers. She had moderate hyperprolinemia (391 mumol/l) without hyperglycinuria. The patient's father showed no physical abnormalities, but he also had hyperprolinemia (671 mumol/l) and hyperglycinuria. CONCLUSION: The association of the Coffin-Lowry syndrome and hyperprolinemia in this family seems fortuitous.

[Treatment of psoriasis by oral calcitriol. A study of 5 cases and review of the literature]. / Traitement du psoriasis par le calcitriol per os. Etude de cinq observations et revue de la littérature.

Vitamin D topical analogues are now considered an excellent adjunct to the therapy of psoriasis. Systemic vitamin D3 treatment has been used occasionally, especially in case of associated hypocalcemia. We report five patients (aged 6, 16, 36, 58 and 79 years) successfully treated with vitamin D3 per os. Four had erythrodermic and/or pustulous psoriasis, and two of these had concomitant hypocalcemia. The fifth patient was a girl with pseudohypoparathyroidism and psoriasis vulgaris. The association of hypocalcemia and severe psoriasis is classical and was an incentive to try vitamin D treatment. A review of the literature showed that vitamin D can also be reported as a treatment of psoriasis vulgaris. Hypercalciuria and hypercalcemia are limiting risks. However calcium toxicity seems to be minor when vitamin D is given once a day at bedtime in doses lower than 2 micrograms/24 h. Double blind studies should be performed to determine the real efficacy of this treatment.

[Cutaneous manifestations of Kawasaki disease. Apropos of 30 cases]. / Manifestations cutanées de la maladie de Kawasaki. A propos de 30 observations.

A series of 30 cases of Kawasaki disease has been studied retrospectively over a period of 11 years. The aim was to reassess the diagnostic value of the dermatological manifestations. A modification of the extremities was observed in 28 patients (23 had early inflammatory lesions, 25 had late desquamation). Exanthema was constant, polymorphous and most often urticaria-like. Vesicles, pustules or purpura were noted during the course of the eruption in 7 patients. A perineal eruption was observed in 17 cases and was found of good diagnostic value even though not pathognomonic. Cheilitis was the most frequent of buccopharyngeal modifications (93 p. 100). Conjunctival hyperemia was noted in 26 patients. Eight children had cardiovascular complications. Among these cases, the modification of the extremities seemed to be more pronounced and stomatitis and arthritis were apparently more frequent. Most of all, the inflammatory syndrome was significantly more severe as concerns CRP and polymorphonuclear leukocytes counts. Dermatological examination often rules out other diagnoses, such as measles, scarlet fever and staphylococcal toxic shock syndrome. However, a complete etiological workup remains mandatory.

Perineal ecthyma gangrenosum in infancy and early childhood: septicemic and nonsepticemic forms.

BACKGROUND: Ecthyma gangrenosum is characterized by necrotic ulcerations surrounded by an erythematous halo. It is secondary to Pseudomonas aeruginosa infection. Most lesions are located in the anogenital and axillary areas, but the route of infection is generally difficult to establish. OBJECTIVE: We report six children with perineal ecthyma gangrenosum and discuss predisposing factors, origin, and route of infection. METHODS: This was a retrospective clinical study. RESULTS: Three children had blood cultures positive for P. aeruginosa, and one died. Predisposing factors were present in all cases; two had received chemotherapy (neuroblastoma, acute lymphoblastic leukemia), and two had idiopathic granulocytopenia. The last two patients previously had received treatment with systemic antibiotics and had abnormal granulocyte killing several months later. CONCLUSION: Septicemic ecthyma gangrenosum can be rapidly fatal in young children and requires aggressive antibiotic therapy. Benign ecthyma gangrenosum in healthy infants may result from a modification of bowel microflora after antibiotic therapy in conjunction with maceration in the diaper area. However, careful evaluation and long-term follow-up must be done to detect neutropenia, functional abnormalities of granulocytes, or a possible immune deficiency.

[Gangrenous ecthyma of the diaper area in infants]. / Ecthyma gangréneux du siège du nourrisson.

Ecthyma gangrenosum due to Pseudomonas aeruginosa is a skin infection in which necrotic ulcerations surrounded by a red areola develop. The diaper area is the region most often involved in infants. Typically, ecthyma gangrenosum occurs in patients with septicemia and risk factors (chemotherapy, neutropenia). However, transient bacteremia or an infection confined to the skin may be the cause in some patients, with maceration in the diaper area and previous antibiotic therapy as risk factors.

Shwachman syndrome: a case report.

Cutaneous involvement is frequent in Shwachman syndrome, and includes various degrees of dry skin, and eczematous and ichthyosiform lesions. A 12-year-old boy with Shwachman syndrome had cutaneous involvement characterized by dry skin, perioral dermatitis, and follicular keratosis. Polymorphonuclear motility was decreased. A nutrition work-up showed a decrease in liposoluble vitamins, and suggested a causative link with the skin lesions.

[Fluctuating muscular dystonia. Segawa's syndrome. Value of the treatment with L-dopa]. / Dystonie musculaire fluctuante. Syndrome de Segawa. Intérêt du traitement par la L-dopa.

The case of an 8 year-old boy presenting with walking difficulties due to dystonia, peculiar because it was more pronounced during daytime is reported. Improvement with treatment with L-Dopa was dramatic. This diurnal fluctuation and excellent response to L-Dopa suggest the diagnosis of Segawa syndrome. The precise mechanism of the dystonia remains unknown.

[Nephronophthisis, tapeto-retinal degeneration, encephalopathy and vermian agenesis: a new association. Apropos of 3 familial cases]. / Néphronophtise, dégénérescence tapéto-rétinienne, encéphalopathie et agénésie vermienne: une nouvelle association. A propos de trois cas familiaux.

We observed a combination of nephronophthisis, tapetoretinal degeneration, vermian agenesis and encephalopathy in three first cousins. Juvenile nephronophthisis, the main inherited renal disease of childhood, is occasionally associated with a genetically linked disease involving the eyes and/or bone and/or liver and/or nervous system. We have assembled approximately one hundred cases of complex nephronophthisis. We discuss the various associations, among which the Senior syndrome (nephronophthisis + tapetoretinal degeneration) is the most frequent. The familial combination seen in our patients has apparently not been previously reported and seems to represent a new expression of the disease.

[Fatal myocardiopathy due to adriamycin in spite of a reportedly non-dangerous cumulative dose]. / A propos d'une myocardiopathie mortelle à l'adriamycine malgré une dose cumulative réputée non dangereuse.

We report a case that illustrates the risk of major, irreversible heart failure despite theoretically safe cumulative doses of adriamycin. We discuss risk factors for cardiotoxicity, predictive methods among which echocardiography is the most useful, and preventive measures. Data are still lacking concerning long term consequences on cardiac function. Until less cardiotoxic adriamycin derivatives become available, modifications in the treatment regimen can be proposed, including a tolerance test, lower doses approximating 20 mg per week instead of 60 mg every three weeks, and administration by continuous infusion through a deep catheter or a pump as cardiotoxicity seems more dependent on drug level peaks than on total dose. These measures should reduce the hazards of adriamycin, a drug that also has potent antimitotic properties.

[Primary isolated vesico-ureteral reflux in children]. / Le reflux vésico-urétéral primitif isolé de l'enfant.

The advantages, complications or sequelae of surgical treatment of primary vesico-ureteral reflux in children are discussed in the light of 382 cases operated upon between 1971 and 1984. Changes in ideas on the fate of primary reflux and its consequences make it necessary to modify our therapeutic strategy, as shown by a study of our records and an exhaustive review of the literature. As a result, we suggest that reflux into a non-dilated ureter should not be operated, whereas reflux into a widely dilated ureter requires surgery. The operation should take place at an early stage in cases with severe renal lesions with pronounced radiological and biochemical alterations. In children with reflux of medium severity, the decision to operate or treat medically must rest on such criteria as age and severity, frequency and resistance of episodes of urinary infection, radiological and endoscopic data and signs of renal tissue functional damage.

Lupus erythematosus panniculitis with partial genetic deficiency of C2 and C4 in a child.

A 7-year-old girl developed recurrent febrile nodules and subcutaneous plaques on her arm, shoulder, and face. Primary acquired toxoplasmosis was diagnosed at onset, because of associated lymphadenopathy and detection of specific IgM. Skin lesions were responsive to therapy with systemic steroids but progressed to atrophy and poikiloderma within a few months. Subsequently, chloroquine therapy has been instituted and no relapse has occurred. Histopathologic findings and direct immunofluorescence studies were diagnostic of lupus erythematosus panniculitis. Electron microscopy showed lamellar inclusions within mast cells. Results of laboratory investigations disclosed leukopenia and hypocomplementemia with low C2 serum levels. A family study of the complement system, including C4 and Bf phenotyping and HLA A, B, and DR haplotyping, revealed the carriage of both C2 and C4A null alleles in the propositus. This observation suggests an additional link between lupus erythematosus panniculitis and the remainder of the lupus erythematosus clinical spectrum.

[Wandering spleen. Apropos of a case in a 4-year-old girl]. / La rate errante. A propos d'une observation chez une enfant de 4 ans.

The case of a 4 year-old girl with ectopic spleen is reported. The diagnostic values of ultrasonography and scintigraphy are emphasized.

Pseudoscleroderma and phenylketonuria.

An infant girl with partial phenylketonuria developed pseudoscleroderma. After six years of follow up, both the neurologic and cutaneous conditions improved under a phenylalanine restricted diet. The probable roles of phenylalanine, tryptophan, tyrosine, and their metabolites may cause both conditions through possible transient hypersensitivity of cutaneous and muscular tissues.

[Inaugural skin manifestations of Still's disease: dermographic urticaria and pseudodermatomyositis]. / Manifestations cutanées inaugurales d'une maladie de Still: urticaire dermographique et pseudo-dermatomyosite.

Unusually prominent cutaneous manifestations were observed in a patient with Still disease. They consisted in dermographic urticaria and edematous erythema of the face and limbs suggesting dermatomyositis. Surprising features in this case are the unusual occurrence of transient hematuria and the isolated cutaneous manifestations at onset.