Congenital Cases of Concomitant Harlequin and Horner Syndromes.

We report three pediatric cases of concomitant congenital Horner and Harlequin syndromes. This association suggests a lesion at the superior cervical ganglion or just inferior. Often, no underlying lesion is documented.

Congenital Harlequin syndrome as an isolated phenomenon: A case report and review of the literature.

UNLABELLED: Harlequin syndrome (HS) is a rare autonomic disorder due to a hemifacial cutaneous sympathetic denervation. It is characterized by unilateral diminished sweating and flushing of the face even though after heat or prolonged exercise. It is typically acquired. Congenital cases only represent a 6% of all individuals with HS. All congenital HS cases reported so far showed a concomitant Horner syndrome, probably due to a stellate ganglion involvement. HS represents an uncommon autonomic disorder due to a hemifacial cutaneous sympathetic denervation. It is clinically characterized by a dramatic alteration in facial appearance: ipsilateral denervated pale and dry half from the other intact red and moist half. CONCLUSION: We present, to the best of our knowledge, the first case of a patient with a congenital HS as an isolated phenomenon.

First case of congenital idiopathic hypohidrosis in China.

A 43-year-old Chinese man presented with generalized hypohidrosis, which he had had since birth, without obvious abnormalities of other skin appendages except a sparse beard and axillary hairs. The sweat test revealed localized sweating on the face, axillae and palms. Histopathologic examination showed that the sweat glands were absent in the forearm and thigh, but some eccrine and apocrine sweat glands were present in the right axilla. S-100 was expressed in the nerve terminals surrounding the acini and ducts of the eccrine sweat glands, while PGP9.5 was positive in the acini of apocrine glands and the nerve terminals surrounding the eccrine glands in the axilla. To our knowledge, this is the first case of congenital idiopathic hypohidrosis in China.

First case of congenital idiopathic hypohidrosis in China

AbstractA 43-year-old Chinese man presented with generalized hypohidrosis, which he had had since birth, without obvious abnormalities of other skin appendages except a sparse beard and axillary hairs. The sweat test revealed localized sweating on the face, axillae and palms. Histopathologic examination showed that the sweat glands were absent in the forearm and thigh, but some eccrine and apocrine sweat glands were present in the right axilla. S-100 was expressed in the nerve terminals surrounding the acini and ducts of the eccrine sweat glands, while PGP9.5 was positive in the acini of apocrine glands and the nerve terminals surrounding the eccrine glands in the axilla. To our knowledge, this is the first case of congenital idiopathic hypohidrosis in China.

Müllerian agenesis with hypohidrotic ectodermal dysplasia syndrome.

OBJECTIVE: To describe the association of müllerian agenesis with hypohidrotic ectodermal dysplasia. DESIGN: Case report. SETTING: University medical center. PATIENT(S): A 17-year-old woman with hypohidrotic ectodermal dysplasia referred for evaluation of primary amenorrhea. INTERVENTION(S): History, physical examination, and ultrasound. MAIN OUTCOME MEASURE(S): Physical findings of these two syndromes. RESULT(S): Physical examination and ultrasound demonstrated müllerian agenesis with findings of hypohidrotic ectodermal dysplasia. CONCLUSION(S): This is the first description of the association of müllerian agenesis with ectodermal dysplasia. This rare case might provide further insight into the development of the uterus and the ectoderm as well as its derivatives.

A child with hypohidrotic ectodermal dysplasia with features of a collodion membrane.

Collodion membrane is a presenting phenotype common to several disorders, predominantly congenital ichthyoses. Seventy percent of infants born with hypohidrotic (anhidrotic) ectodermal dysplasia are noted by their parents to have significant scaling and peeling. Although dry skin is a frequently reported sign in children with hypohidrotic ectodermal dysplasia, only one French study has reported a true collodion membrane at birth. We suspect that scaling with features of collodion membrane is more common in infants than is reflected in the literature, and we describe another such infant, later diagnosed with hypohidrotic ectodermal dysplasia.

[Clinical and genetic aspects of congenital insensitivity to pain with anhidrosis].

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease, which is characterized by recurrent episodes of fever, anhidrosis, self mutilation, absence of reaction to noxious stimuli, prolonged healing times and mental retardation. The absence of pain sensation combined with mental retardation predisposes the children to recurrent wound infections and deep ulcers that heal at a slower pace than seen in healthy people. The anomalous pain is due to the absence of dorsal root ganglia that are responsible for pain sensation and absence of afferent neurons activated by tissue damaging stimuli. Nerve Growth Factor (NGF) is a growth factor that supports the survival of nociceptive sensory and autonomic sympathetic neurons. Neurotrophin Tyrosine Receptor (NTRK1) encodes a receptor tyrosine kinase that is activated in response to NGF. NTRK1 mutations have been found in mice that presented with clinical signs similar to CIPA, subsequently CIPA patients have been examined for these mutations as well. Currently, 37 different mutations at the NTRK1 are known which cause CIPA. The above syndrome is so rare that until the year 2000 only 84 cases have been reported, not including 28 known cases of CIPA patients from Israeli Bedouins. Since no cure is available, prenatal screening, as conducted in our institution, is the only available preventive option to avoid the birth of an affected child.

The circadian rhythm of body core temperature (CRT) is normal in patient with congenital generalized anhidrosis.

The temperature of the human body is not constant during the day, and is related to a double modulation of both homeostatic and circadian processes. The circadian rhythm of body core temperature (CRT) is known to depend on the central mechanism involved in thermoregulatory variations. The role of sweating in the nocturnal fall of body core temperature (BcT) is not clear. We evaluated the CRT in a 45-year-old female with a lack of sweating since birth because of congenital generalized anhidrosis. She referred episodes of heat intolerance when ambient temperature was around 35 degrees C. Skin biopsies of both forearms and left axilla revealed atrophy and morphologic changes of eccrine glands. Neurological examination, nerve conduction studies, sympathetic skin response and cardiovascular reflex tests were normal. The study of CRT was performed by monitoring rectal temperature continuously in controlled conditions (ambient temperature 24 +/- 1 degrees C and humidity 40-50% in a light-dark schedule). The rhythmometric analysis showed normal 24-hour fluctuations. This case represents an "experiment of nature"demonstrating that the physiological nocturnal fall of BcT is independent of sweating.

Oral manifestations of hereditary sensory and autonomic neuropathy type IV. Congenital insensitivity to pain with anhidrosis.

OBJECTIVE: Hereditary sensory and autonomic neuropathy type IV (congenital insensitivity to pain with anhidrosis) is a rare disorder. In this study, we investigated the oral and dental manifestations associated with hereditary sensory and autonomic neuropathy type IV. STUDY DESIGN: Eighteen patients with hereditary sensory and autonomic neuropathy type IV whose ages ranged from 1 year 0 months to 22 years 3 months were examined for oral signs and symptoms of tooth abnormalities, malocclusions, soft tissue disorders, tongue papilla atrophy, and morphologic abnormalities of hands and fingers. RESULTS: All 18 patients showed congenital insensitivity to pain and anhidrosis. Oral self-mutilations, such as autoextraction of teeth and severe biting injuries (with resultant scarring) of the finger tips and oral soft tissues (tongue, lip, and buccal mucosa), were found in most patients. In infant patients the condition was typically characterized by decubital ulcers on the ventral surface of the tongue, resulting from trauma of the incisal edge of erupting mandibular primary incisors during sucking or nursing. These ulcers led to several local and systemic problems, such as tongue bleeding, infection, malnutrition, and halitosis. A large number of missing teeth and a high incidence of dental caries were additional characteristic findings. Such oral self-mutilations were found to decrease with age and with the intellectual, social, and/or emotional development of the patients. However, not all of the mutilations were completely eliminated. Two patients had partial dentures to replace missing teeth. CONCLUSIONS: Our study suggests that early diagnosis and specific dental management for patients with hereditary sensory and autonomic neuropathy type IV are important for prevention of the characteristic oral and dental problems accompanying this disorder.

[Anesthesia for a child with congenital sensory neuropathy with anhydrosis].

We gave anesthesia twice to a 4-year-old boy with congenital sensory neuropathy with anhydrosis. At the first surgery, anesthesia was induced with midazolam and maintained with nitrous oxide, oxygen and sevoflurane 0.5-0.8% under mask breathing. Surgery was performed without any trouble but the patient vomited postoperatively for three days. Next time, anesthesia was induced and maintained with propofol under mask. The patient often moved during surgery, and therefore, we changed from propofol to oxygen and sevoflurane 1.0-1.5% anesthesia. Nitrous oxide was not used. After the surgery, no vomiting occurred.

Congenital insensitivity to pain and anhidrosis with mitochondrial and axonal abnormalities.

Hereditary sensory and autonomic neuropathy type IV, or congenital insensitivity to pain with anhidrosis (CIPA), is a rare clinical disorder with only 32 cases reported in the literature. There has been no consistent pathophysiologic defect of the sensory nerve detected by light microscopic examination, but a frequent finding of decreased small myelinated fibers and a uniform finding of decreased unmyelinated fibers by ultrastructural analysis has been reported. Muscle biopsy in a 2-year-old boy with congenital insensitivity to pain with anhidrosis indicated lipid droplet accumulation and reduced cytochrome C oxidase histochemically on light microscopy. Electron microscopic study showed almost absent small unmyelinated nerve axons within the muscle, increased microfilaments, and decreased microtubules in axons, some abnormally enlarged mitochondria, and normal-appearing motor endplates. Biochemical analysis of muscle mitochondrial enzyme function revealed cytochrome c oxidase function to be reduced to 35% of normal, with normal function of the other mitochondrial enzymes.

Muscle involvement in congenital insensitivity to pain with anhidrosis.

A patient with congenital insensitivity to pain with anhidrosis, who had characteristic clinical features and biopsied sural nerve, is presented. Nerve pathology findings indicated a loss of the small myelinated and unmyelinated fibers. Biopsied muscle disclosed a marked variation in fiber size, some small fibers with central nuclei, and a small number of small angulated fibers, consistent with neurogenic and myogenic changes. Many patients with congenital insensitivity to pain with anhidrosis had muscle weakness and absent or decreased deep tendon reflexes with normal nerve conduction velocity. We confirmed that lack of small myelinated fibers in motor neurons resulted in a striking change of muscle in our patient.

Congenital sensory neuropathy with anhidrosis.

A 6-year-old girl had congenital sensory neuropathy with anhidrosis (CSNA), one of the five variants of a group of very rare genetic disorders of the peripheral nervous system--hereditary sensory neuropathies (HSN). Clinical, laboratory, and physiopathologic aspects are discussed. Dermatologic findings of anhidrosis and self-mutilation suggest the diagnosis.

[Anesthetic consideration of a patient with congenital insensitivity to pain with anhidrosis].

Congenital insensitivity to pain with anhidrosis is a rare disorder but several clinical anesthetic experiences have been reported in Japan. We anesthetized a patient with this disorder for orthopedic operation with a low concentration of sevoflurane under monitoring of body temperature and we measured the concentrations of plasma ADH, cortisol and catecholamines levels before, during and after the operation. There were no problems during anesthesia and the patient awoke rapidly. ADH, cortisol and epinephrine concentrations showed slight elevations during and after the operation. The management of intraoperative body temperature and the necessary level of anesthesia were also discussed.

Familial generalized anhidrosis.

A young Caucasian male, otherwise healthy, had had generalized anhidrosis since early childhood. During heat stress tests (40 degrees C, 40% relative humidity), he was found to be heat intolerant since sweat was not apparent. His reaction to muscarinic stimulation of sweat glands was 10% of normal. On biopsy, the sweat glands were morphologically intact, and function of his cardiovascular autonomic responses was normal. The patient's mother reported reduced sweating and her response to muscarinic stimulation was 50% of normal, but his father and both sisters sweated normally. The data suggest a post-ganglionic defect, which may be genetic. To our knowledge this is the first reported case of familial generalized anhidrosis without anatomopathological lesions affecting sweat glands.