[Physiopathogenesis of functional hypertrichosis. I. Specific aspects of androgen metabolism in functional hypertrichosis and total physiopathogenesis].
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Hypertrichosis lanuginosa is a pathologic state characterized by an excessive, new growth of fine, fetal hair. Two cases of hypertrichosis languinosa with malignancy (lymphoma and uterine cancer) are presented and added to the 9 in the literature. Lymphoma and uterine cancer are previously unreported as associated with hypertrichosis osis lanuginosa. Review of the 11 cases of hypertrichosis lanuginosa revealed the following characteristics: females were predominant; none was below the 4th decade; all had advanced neoplastic disease; all malignancies except one were of epithelial origin; and there were no demonstrable endocrine abnormalities. Despite an attempt to find etiologic factors in our patients and in the literature, none could be elicited.
Acquired hypertrichosis lanuginosa is universally recognized as an individual disease and seldom reported as a genuine paraneoplastic manifestation. We report the case of a 30-year old woman with acquired hypertrichosis lanuginosa. Due to the finding of a cervical lymph node metastasis, she was investigated for an internal neoplasm, but the original tumour could not be found by the usual methods. A bronchogenic carcinoma was discovered at autopsy. Beside hypertrichosis, this patient had other disorders not described in the literature as associated with that disease, viz.: progressive systemic scleroderma, fissured and hyperpigmented tongue, thrombocytopenia, galactorrhoea, axillary and pubic alopecia and overcurvature of toe nails. A review of similar cases in the literature provided clinical arguments in favour of the hormonal origin of this paraneoplastic hypertrichosis.
Hypertrichosis is an unusual but well-recognized genetic condition. Hypertrichosis may be generalized or limited to specific body areas, in which case it is usually not associated with other anomalies. Five previous cases of hypertrichosis cubiti have been reported, with short stature in 2 sibs being the only other associated abnormalities. We report on a child with hairy elbows, developmental delay, facial asymmetry, and delayed speech with normal parents. Our patient may represent severe expression of the hairy elbow syndrome or constitute a previously unrecognized syndrome.
Prepubertal simple hypertrichosis is characterized by excessive growth of vellus hair in children without other signs of endocrinopathies. The aetiology is unknown and it is not clear if it is an abnormal entity or an extreme form of the normal range of hair growth. Sixteen girls (aged 7 +/- 1.9 years, mean +/- SD) with prepubertal simple hypertrichosis and, as controls, 12 normal age-matched girls were studied. All patients were in preadrenarchal age and in all patients an ACTH test was performed to exclude non-classical forms of congenital adrenal hyperplasia. Testosterone (T), androstenedione (A), dehydroepiandrosterone sulphate (DHA-S), dihydrotesterone (DHT), 3 alpha-androstanediol (3Ad) and its glucuronide (3AG), and sex hormone binding globulin (SHBG) were evaluated and free testosterone (FT) and T/SHBG ratio were calculated in all subjects. In all patients we found T, A and DHA-S plasma levels comparable to controls, excluding an increased glandular androgen secretion. No significant differences, compared to controls, were observed for SHBG, FT and T/SHBG ratio, suggesting a normal T bioavailability. DHT plasma levels were significantly increased with respect to controls (0.42 +/- 0.04 vs 0.11 +/- 0.03 nmol/l; P less than 0.002) whereas 3Ad and 3AG were comparable to controls. The very significant increase in DHT plasma levels, without a parallel increase in 3Ad and 3AG found in our cases with prepubertal simple hypertrichosis, is difficult to explain. The clinical and biochemical significance of the high DHT plasma values needs more investigation.
We report four patients with hypertrichosis cubiti who were referred for investigation of short stature. Two males, whose height was on and just below the 3rd centile respectively, were sporadic cases and two females with disproportionate short stature were mother and daughter. Radiological changes present in the familial cases were non-specific and biochemical investigations were normal. Of the four other published cases, two were sporadic and of normal height. The other two were sibs with short stature and their parents were heterozygous for the Weill-Marchesani syndrome. We were unable to ascertain whether hypertrichosis cubiti cosegregates with the same type of skeletal dysplasia or elucidate the type of genetic transmission of hypertrichosis cubiti alone.
Hypertrichosis is a well-recognized adverse effect of therapy with either cyclosporine or minoxidil. We present a case of extreme hypertrichosis in an eight-year-old male liver transplant recipient who received concurrent cyclosporine and minoxidil therapy. A review of drug-induced hypertrichosis is presented.
Minoxidil is a potent peripheral vasodilator used to treat patients with severe hypertension that is unresponsive to other medications. Hypertrichosis of the forehead, face, neck, shoulders, upper part of the arms, and legs is a frequent side effect that occurs in the majority of patients that use this drug. This phenomenon appears to be due to increased blood flow to hair follicles, with resultant excessive hair growth. We describe a patient with severe hypertrichosis of the external ear canal resulting in chronic otitis externa and hearing loss.
We have studied 2 Egyptian sibs (the offspring of normal first cousins) with congenital cataract, hypertrichosis, mental retardation, and normal chromosomes. Review showed that the condition of our patients was not similar to any previously reported entity. POSSUM lists 84 syndromes with any of the above 3 main traits. Two disorders with cataract and mental retardation, Martsolf syndrome and Mollica-Pavone-Anterer syndrome, have overlapping manifestations and therefore are particularly differentiated from our cases. We suggest that the association of congenital cataract, hypertrichosis, and mental retardation observed in this report represents a new autosomal recessive syndrome.
A family with congenital localized hypertrichosis transmitted in an autosomal dominant pattern is presented. The excessive hair growth was localized to the cervical region and was associated with underlying kyphoscoliosis. No additional cutaneous or skeletal abnormalities were identified. To our knowledge these are the first cases of familial congenital cervical hypertrichosis associated with underlying kyphoscoliosis reported in the literature.
A patient with hypertrichosis lanuginosa acquisita associated with pancreatic islet cell carcinoma, probably D cell type, is presented. The hypertrichosis antedated other evidence of malignancy.
Naevoid hypertrichosis is an unusual congenital disorder consisting of a solitary circumscribed area of terminal hair growth which is not associated with any other systemic abnormalities. We describe a patient with multiple areas of circumscribed naevoid hypertrichosis on the trunk and limbs who also had lipodystrophy at some affected sites.
Hypertrichosis lanuginosa (without gingival hyperplasia) is described in a mother and son; the latter also had photophobia, infantile genitalia, growth retardation, hypotension, low IQ and dental abnormalities (hyperdontia, permanence of deciduous and delayed eruption of permanent teeth). Both have normal dermatoglyphics. Some clinical findings are discussed. The presence of this syndrome in a mother and son supports an autosomal mode of inheritance (with variable expressivity). Hypertrichosis lanuginosa is a pure monomultidysplasia and may be classified with the tricho-odontic sub-group of the ectodermal dysplasias.
Hypothyroidism is not commonly associated with acanthosis nigricans (AN). We examined a 13-year-old girl with AN, hypertrichosis, and Hashimoto's thyroiditis. Overt biochemical hypothyroidism, thyroid enlargement, and positive titers of antimicrosomal and antithyroglobulin antibodies confirmed Hashimoto's thyroiditis. Both AN and hypertrichosis resolved with thyroid hormone replacement. There was no evidence of insulin resistance, polycystic ovarian disease, lipoatrophy, or other endocrine dysfunction, or of malignancy. In two patients from the literature with AN and hypothyroidism, AN was attributed to associated thyroid carcinoma or insulin resistance, rather than coexisting hypothyroidism. Since the skin lesions improved with thyroid hormone therapy in those two patients and in ours, hypothyroidism appears to be directly involved in the pathogenesis of AN.
To study a possible relationship between ciclosporin-induced hypertrichosis and sex hormone pattern, the hair growth in different areas of the body was graded and hormone levels were assayed before and up to 6 months after kidney transplantation. Increased hair growth was observed in 100% (23/23) of the patients in skin areas connected with androgen action and in 78% of the patients in androgen-insensitive areas. After renal transplantation the pituitary, testicular and adrenal hormone levels normalized. The posttransplantation levels of these hormones would not explain the observation of increased hairgrowth. Thus, ciclosporin induces hypertrichosis via a mechanism independent of sex hormones.
1 61-year-old man had osteosclerotic myeloma that was localized in the eleventh thoracic vertebral body and associated with sensorimotor polyneuropathy, skin hyperipigmentation, edema, hypertrichosis, gynecomastia, and white nails. Cases of osteosclerotic myeloma with and without polyneuropathy in the literature were reviewed with special reference to accompanying dermatologic and endocrinologic signs and synmptoms. We assume that the polyneuropathy, cutaneous hyperpigmentation, edema, hypertrichosis, gynecomastia, and white nails are causally related to each other and are a remote effect of osteosclerotic myeloma. Quantitative histologic analysis of two sural nerves biopsied within 2 years of each other during the course of the disease indicated that both large and small myelinated fibers degenerated progressively, with relative preservation of unmyelinated fibers.
A 46-year-old nulligravida complained of the recent development of an erythematous skin eruption and fine blond hair over her face. These complaints appeared to be symptoms of acquired hypertrichosis lanuginosa, which may be associated with malignancy. The patient was found to have an endometrial adenocarcinoma with nodal metastases and was treated with hysterectomy and irradiation. Eighteen months later there was no evidence of the cancer, and the lanugo hairs had vanished. This is the first known instance of hypertrichosis lanuginosa associated with a gynecologic cancer and the first ever observed in which the lanugo hairs disappeared after cancer therapy.