Lawrence M. Solomon

Vitamin D-resistant rickets associated withepidermal nevus syndrome: Demonstration of a phosphaturic substance in the dermal lesions

A 5-year-old boy was found to have severe rickets in association with hyperpigmented, linear, verrucous, epidermal tumors, typical of the epidermal nevus syndrome. Normocalcemia (9.6 mg/dl), hypophosphatemia (2.0 mg/dl), elevated serum alkaline phosphatase concentration (313 IU), decreased renal tubular reabsorption of phosphorus (35%), radiologic evidence of rickets, and lack of response to usual therapeutic doses of vitamin D suggested hypophosphatemic vitamin D-resistant rickets. Therapy with vitamin D in doses to 750,000 IU and oral phosphate, 2.0 gm/day, failed to induce healing of the rickets. A subtotal parathyroidectomy performed when the patient was 9 years old was also without effect. When he was 12 years old several fibroangiomas on the face and left lower limb were excised. Within three months all biochemical abnormalities resolved and radiologic evidence of healing was observed. A portion of excised tissue was homogenized and injection of the supernate into a 6-week-old puppy induced excessive phosphaturia. The data suggest that the rickets was induced by a phosphaturic substance extractable from the tumors.

Eosinophilic Pustular Folliculitis In Infancy

Abstract: Five infants under 1 year of age were reported with a syndrome of recurrent crops of pruritic papulopustules of the scalp. In three children there were also intermittent outbreaks on the trunk and extremities. Cultures showed the pustules to be sterile. Biopsies of scalp and skin tissues showed eosinophilic folliculitis. Some patients had eosinophilia during outbreaks of pustules. These cases are similar to the eosinophilic pustular folliculitis reported in a few adult patients with the exception that there was predominant scalp involvement in the children. We propose that eosinophilic pustular folliculitis of infancy is a distinct pustular dermatosis.

Incorporation of D‐amphetamine into pigmented guinea‐pig hair

Incorporation of D‐amphetamine into the hair of a black‐pigmented guinea‐pig was measured by a 14C‐tracer method. D‐Amphetamine administered intraperitoneally was found to be incorporated into the hair, and part of the radioactivity was found in isolated melanin. The findings are in conformity with the concept that D‐amphetamine gains access to melanocytes through the arteriovenous or lymphatic circulation, enters melanosomes, interacts with the melanosomal protein and melanin, and resides ultimately in the pigment granules in the hair fibre. The findings suggest a pathway which may influence the biological activity of this and related drugs.

Neonatal dermatology. I. The newborn skin

T rI ~. s K I N of the newborn infant may present a variety of lesions: some innocent, temporary, and the result of a physiologic reaction, others the result of episodic disease, and still others indicative of a serious potentially fatal underlying disorder. The definitive diagnosis of specific skin lesions requires an understanding of the physiologic characteristics and peculiarities of neonatal skin, a recognition of primary skin lesions, and knowledge of their significance. This paper will briefly review current understanding of the biological properties peculiar to newborn skin, discuss certain diagnostic problems encountered in the first 4 weeks of life, and provide some general principles for their management. A subsequent commentary will discuss specific blistering and scaling dermatoses that occur in the neonatal period.

CEPHALIC PYODERMA GANGRENOSUM (PG)‐LIKE LESIONS AS A PRESENTING SIGN OF WEGENER'S GRANULOMATOSIS

Background. Pyoderma gangrenosum (PG)‐like lesions can be associated with Wegeners granulomatosis (WG); in rare instances, they could be the presenting sign of WG. The purpose of this study was to elucidate the relationship between these two disorders.

Structural hair abnormalities in ectodermal dysplasia.

The hair of patients with three ectodermal dysplasias–ectrodactyly ectodermal dysplasia clefting syndrome (EEC); orofacial–digital syndrome (OFD) type I; and anhidrotic ectodermal dysplasia syndrome (AED)– were studied by scanning electron microscopy. While no pathognomonic abnormalities were noted for each condition, hair shaft structural defects were evident in all patients studied. The EEC clefting syndrome and OFD I shared the most deforming defects, while AED had fewer.

Pigmentary Regression in a Giant Nevocellular Nevus: A Case Report and a Review of the Subject

Abstract: A giant congenital nevocytic nevus (CNN) on the trunk was followed in a patient from age three months to 23‐years‐oId. During that time the nevus underwent pigmentary regression leaving 2–3 mm lentigines without any evidence of vitiligo or halo formation around the giant CNN. Histopathologi‐cally. nevus cells remained in the dermis.

Multiple forms of adenosine 3′,5′-cyclic monophosphate-dependent protein kinase from monkey skin

Abstract Multiple forms of adenosine 3′,5′-cyclic monophosphate-dependent (cyclic AMP-dependent) protein kinase (ATP: protein phosphotransferase, EC 2.7.1.37) which catalyze the phosphorylation of various protein acceptors by ATP have been demonstrated in rhesus monkey skin. The enzymes are stimulated most efficiently by cyclic AMP whereas its analogs are less effective. They resemble one another in several of their kinetic parameters and also substrate specificities. The pH optimum for the kinases is between 8.0 and 9.0. The K m values for cyclic AMP are 1.2 and 2.5·10−8 M for kinases I and III, respectively; and for histones the corresponding values are 0.23 and 0.50 mg/ml. The kinases have similar K m values for ATP which are not significantly affected by cyclic AMP. The interrelationship between the kinases and their possible clinical significance in skin disorders remain to be established.

The tricho‐rhino‐phalangeal syndrome

A family with the tricho‐rhino‐phalangeal syndrome was studied. One child, the proband, manifested the complete triad of the syndrome with fine, sparse, slow‐growing hair, pear‐shaped nose, and abnormal fingers. Cone‐shaped epiphyses were observed radiographically in the child, in both parents, and in two of three remaining children.

Evaluation of Transdermal Theophylline Pharmacokinetics in Neonates

Theophylline may be administered by several routes, but problems are associated with neonatal dosing. The transdermal route may provide a safer and noninvasive method of administration, yet produce therapeutic concentrations in a consistent and reliable manner. To study the feasibility of this in the apnea of prematurity, stable neonates were administered a subtherapeutic transdermal dose for 24 hours in order to assess pharmacokinetics and bioavailability. This was followed with routine intravenous theophylline therapy according to institutional policy. Six of nine neonates had detectable serum theophylline concentrations that increased slowly after patch application. Mean (± SD) maximum serum concentration was 2.4 ± 1.3 μg/ml, mean time to maximum serum concentration was 22 ± 8.2 hours, and mean latency period was 8.0 ± 4.9 hours. Mean total amount of theophylline delivered to the skin was 18.6 ± 4.1 mg. Mean fractional absorption at 30 hours was 0.25 ± 0.12. These data demonstrate that it is possible to produce systemic theophylline concentrations with a transdermal patch in preterm infants sufficient to study pharmacokinetics and bioavailability, and that transdermal delivery of therapeutic doses is technologically feasible.