Tuberous sclerosis: the incidence of sporadic cases versus familial cases.

In 48 families in which tuberous sclerosis occurred, extensive examination presented almost the same incidence of sporadic cases as reported in previous studies. Although inspection of the skin and cranial computed tomography seem to be the most sensitive diagnostic tests available, negative results with these methods do not exclude the diagnosis. Estimation of alpha 2-macroglobulin serum level does not mean an extension of the diagnostic arsenal.

Ito's hypomelanosis (incontinentia pigmenti achromians). A review of four cases.

In 1952 Ito described the occurrence of a bilateral systematized depigmented nevus in a 22-year-old Japanese woman. He used the term incontinentia pigmenti achromians. The condition has been described under various designations, such as for instance Ito's hypomelanosis. Till now 71 patients with this syndrome are described. We will report 4 cases, 2 boys and 2 girls, 2 Caucasian, 1 Indonesian and 1 Caribean child. The cutaneous signs in these 4 patients fit in with the syndrome of Ito's hypomelanosis. Of these 4 children 3 are mentally retarded, 2 have epilepsy. Congenital malformations are seen in 3 children. Electronmicroscopy of skin biopsies of the hypomelanotic nevus and of the normal skin were performed. In the biopsy of the normal skin of one patient interruption of the basement membrane is seen. Anomalies of the central nervous system as seen in our patients occur in about 40% of the cases. Abnormalities of skin derivatives next to other ectodermal anomalies are described. Affection of other germ layers also occur to a varying degree. In our 4 patients some of these abnormalities exist also. These 4 cases are presented to underline the fact that this syndrome seems not to be as extremely rare as is proposed.

Severe congenital skin defects in a newborn. Case report and relevance of several obstetrical parameters.

The clinical, laboratory, histologic and autopsy findings are reported from a live-born male infant with severe congenital skin defects (CSD) who survived for 2 days. The family history revealed consanguinity of the (Turkish) parents. The patient was compared with 10 cases from the literature with the most severe form of CSD. The combination of severe CSD, parental consanguinity and gastrointestinal atresia was found in 3 of these 11 cases, including our own patient. Differentiation from an atypical form of epidermolysis bullosa, complicated by pyloric atresia, is difficult. The mechanism of the (prenatally detected) elevated amniotic fluid alpha 1-fetoprotein (AFP) level is discussed. The finding of a balanced 13q14q chromosome translocation in the infant and his mother is considered a coincidence.

Practical phlebology. Sclerotherapy of large veins.

A practical, step-by-step guide for the sclerotherapy of large varicose veins is offered. First, an orientation regarding the place of sclerotherapy and surgery in the total treatment of varicose veins is given, with a practical clinical classification of varicose veins. This is followed by a detailed discussion of patient education before sclerotherapy, material to be used with recommended concentrations, injection technique, compression after sclerotherapy, instructions to the patient after injection, and procedures at subsequent visits.

Diagnosis of carcinoma and benign cysts of the breast. The value of needle aspiration.

Diagnosis of solid breast masses by needle aspiration with cytological examination of the aspirate has been practiced for some time in several centers in this country and abroad. It has been proposed as an alternative to the conventional excisional biopsy for the diagnosis of carcinoma of the breast. At the same time, simple needle aspiration of benign cysts as an office procedure has gained new favor as a means of proving the presence of benign disease at the first office visit and thus avoiding the loss of time, and the expense and worry of surgical excision in a hospital. From a review of the reliability and practical usefulness of both methods, it is concluded that aspiration biopsy for the diagnosis of carcinoma is less reliable than conventional excisional biopsy and offers very little practical advantage. Simple aspiration of cysts, on the other hand, appears to offer a true saving of time, expense and worry, and to be a reliable method, if used properly.

Treatment of varicose veins: modern concepts and methods.

Varicose veins have been a somewhat neglected entity. Treatment usually consists of routine stripping of the main trunks and excision of all distal tributaries, resulting in many unsightly scars. Modern diagnostic methods trace the origin of the reflux causing the condition. If the saphenofemoral or saphenopopliteal junction is involved, limited surgery is done, followed by sclerotherapy of the varicose tributaries later. Many cases can be treated with sclerotherapy only. A description of the new concepts is given. A diagnostic classification is presented, together with the corresponding methods of treatment.

Familial acrogeria (Gottron).

A mother and her oldest son suffering from acrogeria are described; in the mother the disease was complicated by elastosis perforans serpiginosa. Microscopic and ultramicroscopic details are given.

X-linked icthyosis. A sulphatase deficiency.

In 3 pregnant women oestrogen excretion in the urine was very low. The pregnancies were otherwise uncomplicated and the 3 infants, boys, were normal at birth, but later developed ichthyosis of the X-linked inherited type. Histochemically, the placenta in each case showed deficiency in arylsulphatase-type C activity. In all three children the skin showed the same enzyme deficiency. In the skin of 9 other unrelated (adult) patients with proved X-linked inherited ichthyosis vulgaris, arylsulphatase C activity was deficient. Skin from 5 normal adults and 5 normal children showed arylsulphatase C activity to be present. It is concluded that a sulphatase deficiency is a factor in the causation of ichthyosis of the X-linked inherited type.

Mild variant of argininosuccinic aciduria.

A 7 and one half-year-old boy with a massive excretion of argininosuccinic acid is described. He exhibited only moderate mental retardation, cerebellar ataxia and both abnormal hair and skin. Argininosuccinate lyase activity in the erythrocytes of his parents and his sister was in the range expected for heterozygotes. The patient was put on a low protein diet with arginine supplementation and improved clinically and biochemically on this regime. The variability of the phenotypic expression of argininosuccinate lyase deficiency is stressed.

A case of chronic oropharyngo-esophageal candidiasis with immunological deficiency: successful treatment with miconazole.

The case of a 38-year-old male patient with chronic recurrent oropharyngo-esophageal candidiasis since early childhood, resistant to topical therapy with nystatin, is reported. The disease had resulted in impressive oropharyngeal lesions and stricturing of the midesophagus. Extensive in vivo and in vitro immunological studies done before and after successful treatment with miconazole showed a persistent partial deficiency of the cell-mediated immune system, in particular that directed toward candida antigens. Miconazole, a new potent antifungal drug, proved effective in controlling the candidiasis, which had become resistant to conventional treatment.

Clinical features of an affected father and daughter with Ehlers-Danlos syndrome type VIIB.

The clinical features of a father and daughter with Ehlers-Danlos syndrome type VIIB are described. They included severe cutaneous fragility, generalized joint laxity, kyphoscoliosis and a slightly dysmorphic face in the adult, with generalized joint laxity and congenital hip dislocation, hyperextensible skin and easy bruising in the child. The dermis contained slightly distorted collagen fibrils when examined by electron microscopy. The disorder is caused by G to A point mutation in the first base of intervening sequence 6 with resultant mis-splicing.

Sex-linked ichthyosis and placental sulphatase C deficiency.

Ichthyosis was diagnosed in six boys born from pregnancies in which placental steroid sulphatase deficiency was present. In four cases the diagnosis of sex-linked ichthyosis was certain, in the other two the ichthyosis was probably of the sex-linked type. No arylsulphatase C activity could be demonstrated histochemically either in the epidermis of these boys, or in the epidermis of adults with sex-linked ichthyosis, whilst it was present in normal controls. In cultured skin fibroblasts steroid-sulphatase activity was extremely low. We conclude that deficiency of steroid sulphatase C or arylsulphatase C or a third functionally linked enzyme is an important factor in the pathogenesis of sex-linked ichthyosis.

A new method for the determination of steroid sulphatase activity in leukocytes in X-linked recessive ichthyosis.

The diagnosis of X-linked ichthyosis can now be reliably established by using a non-radioactive method to detect steroid sulphatase deficiency in leukocytes. This new method yields the same results with leukocytes as with cultured fibroblasts. The second type of microsomal arylsulphatase previously described in cultured fibroblasts is also present in leukocytes.

X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations.

The combined occurrence of X-linked steroid sulfatase deficiency of the placenta and X-linked ichthyosis is reported in 6 unrelated boys. Placental steroid sulfatase deficiency was diagnosed on the basis of a very low total estrogen excretion (6 cases), verified prenatally by the dehydroepiandrosterone sulfate (DHEAS) loading test in 4 cases and postnatally by clinical investigations (6 cases) and by biochemical investigations (5 cases). In addition, microsomal arylsulfatase C (MAS) could not be detected in the placental homogenate of the five cases investigated. Lysosomal arylsulfatases were within the normal range. All boys developed well except for X-linked ichthyosis. In the 5 cases investigated the skin biopsy showed the same MAS deficiency histochemically in the granular layer of the epidermis as in the trophoblast cells. The same holds true for the skin of carriers. Steroid sulfatase activity of cultured skin fibroblasts from the boys was almost nil (3 cases). The histochemical technique offers a practical approach in the scientific investigation of keratotic conditions.