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Biomedical subjects

R Happle

Publications and source records attributed to R Happle.

At least 199 records · Page 11Linked to original sources
PubMed1992

[Leukonychia longitudinalis as the primary symptom of Hailey-Hailey disease].

Longitudinal white bands on the fingernails were observed in a 58-year-old male patient with perianal intertrigo. His nail changes were a first clue to the diagnosis of Hailey-Hailey disease, which was later confirmed histopathologically. Similar nail abnormalities were found in the patient's son who was also affected with Hailey-Hailey disease. These findings support the concept that those nail changes, first described by Burge in 1991, constitute a useful diagnostic marker in Hailey-Hailey disease.

Biopsy↗
PubMed1992

[X-chromosome dominant chondrodysplasia punctata (Happle) in a boy].

The case of a newborn boy with ichthyosiform erythroderma, asymmetrical shortening of the femur and sectorial cataract is reported. The hyperkeratotic areas cleared within 2 months, resulting in follicular atrophoderma. The clinical findings and course of the disease, and also the histological and ultrastructural features, indicate an X-linked dominant chondrodysplasia punctata (Happle). Since a normal male karyotype (46, XY) is present, a half-chromatid mutation of the maternal gamete and a somatic mutation are considered as possible explanations for this mosaic phenotype.

Biopsy↗
PubMed1992

Restrictive dermopathy in two brothers.

BACKGROUND: Restrictive dermopathy is an autosomal recessive phenotype characterized by universal tautness of skin resulting in fetal akinesia and death during the neonatal period. The clinical signs and symptoms of this uncommon disease are described in two brothers, and evidence is provided that fetal biopsy specimens obtained during the 20th week of gestational age are nondiagnostic. OBSERVATIONS: The first patient was a growth-retarded preterm boy suffering from generalized desquamation, marked joint contractures, and facial hypoplasia. Prominent light microscopic findings were hyperorthokeratosis intermingled with parakeratosis and absence of the elastic fibers in a thinned dermis. Electron microscopic examination of the epidermis revealed a lack of keratin filaments and an abnormal globular shape of the keratohyalin granules. The child died 4 days after birth. A following pregnancy resulted in birth of a preterm boy who died of the same disease within 2 hours. In the 20th week of gestational age, fetal biopsy specimens were obtained, but light and electron microscopy failed to reveal any abnormalities. CONCLUSIONS: Restrictive dermopathy is a genuine skin disease resulting in fetal akinesia that precludes a normal intrauterine development. The clinical features of this disorder are so distinctive that an on-the-spot diagnosis can be established. In view of the data obtained in this case, the feasibility of prenatal diagnosis should be regarded with great caution.

Face↗
PubMed1991

Autosomal dominant transmission of the NAME syndrome (nevi, atrial myxoma, mucinosis of the skin and endocrine overactivity).

A family affected in two generations with the NAME syndrome is described, and the literature on this phenotype reviewed. The term "NAME" was originally proposed as an acronym for "nevi, atrial myxoma, myxoid neurofibromata and ephelides". However, in order to give a more comprehensive description of this syndrome, we recommend the following alternative interpretation of "NAME": nevi, atrial myxoma, mucinosis of the skin, endocrine overactivity. Previous family observations suggested a dominant, and probably autosomal, inheritance but an X-linked dominant transmission could not be excluded. We describe male-to-male transmission, strongly supporting the concept of the autosomal inheritance of this trait.

Adult↗
PubMed1991

Allelic somatic mutations may explain vascular twin nevi.

Vascular twin nevi, i.e., telangiectatic nevus and nevus anemicus occurring together and adjacent to each other, can be explained as twin spots resulting from a somatic recombination. It is so far unclear, however, whether the postulated underlying autosomal recessive mutations are allelic. This problem can be approached by studying another cutaneous phenotype, phacomatosis pigmentovascularis. Within this diagnosis, several authors have reported the simultaneous occurrence of three different birthmarks, viz., a pigmentary nevus, a telangiectatic nevus and a nevus anemicus. These cases can also be explained as a twin-spot phenomenon, provided two of these nevi are considered allelic traits. The two vascular nevi are most probably allelic, whereas the pigmentary nevus may be a nonallelic component of this syndrome. In conclusion, phacomatosis pigmentovascularis provides circumstantial evidence suggesting allelism of somatic mutations giving rise to two different vascular nevi.

Alleles↗
PubMed1991

Expression of tenascin in perifollicular connective tissue: comparison of normal scalp and alopecia areata.

Tenascin, a recently discovered extracellular matrix protein, was demonstrated in perifollicular connective tissue of normal human scalp using immunohistochemistry. Its localization was different from other well-known extracellular matrix components, like fibronectin, laminin and heparan sulphate proteoglycan. A comparison between alopecia areata and normal scalps did not reveal major qualitative differences, except for an increased expression near heavily infiltrated follicles.

Alopecia Areata↗
PubMed1991

The effect of topical retinoids on the leukotriene-B4-induced migration of polymorphonuclear leukocytes into human skin.

Systemic retinoids are effective in a variety of inflammatory dermatoses. Disorders in which polymorphonuclear leukocytes (PMN) are involved, such as psoriasis and acne, respond particularly well to various retinoids. However, side-effects restrict the use of systemic retinoids to severe manifestations. Topical application might provide the possibility of avoiding the systemic side-effects of these compounds. In this communication we report on the modulation of transepidermal migration of PMN by topical application of all-trans-retinoic acid, 13-cis-retinoic acid, arotinoid methyl sulphone and arotinoid ethyl sulphone. Test areas of healthy volunteers were pretreated with these retinoids in a cream base and with corresponding placebo creams, and intraepidermal accumulation of PMN was quantified 24 h after epicutaneous challenge with leukotriene B4 (LTB4), using elastase as a marker enzyme. Topical treatment with 13-cis-retinoic acid resulted in a marked and statistically significant inhibition of the LTB4-induced migration of PMN. All-trans-retinoic acid, arotinoid methyl sulphone and arotinoid ethyl sulphone reduced the accumulation of PMN slightly, but not statistically significantly. Topical treatment with arotinoid methyl sulphone had no effect.

Administration, Topical↗
PubMed1991

Griscelli disease with cerebral involvement.

A 9-month-old Turkish boy was diagnosed as having Griscelli disease (Chediak-Higashi-like syndrome). Clinical signs consisted of silver-grey hair and a relatively light skin colour, recurrent episodes of fever, with or without detectable infections, increasing hepatosplenomegaly, hypotonia and motor retardation. Laboratory studies showed pancytopenia of varying degree but neither inclusion bodies nor vacuoles were seen in his leucocytes. Serum immunoglobulin levels were normal except for a IgG2 deficiency. In the mixed lymphocyte reaction the stimulation capacity of the leucocytes was decreased. Microscopic examination of his hair and electron-microscopic examination of a skin biopsy further confirmed the diagnosis. Shortly before the diagnosis was made, the child developed cerebral symptoms with hemiparesis and convulsions. A CT scan suggested cell infiltration of the brain. A few weeks later the boy died of an infection.

Albinism↗
PubMed1991

Prognostic factors in the treatment of alopecia areata with diphenylcyclopropenone.

One hundred thirty-nine patients with alopecia areata were treated with diphenylcyclopropenone. Before treatment, 85 patients had subtotal or total hair loss (greater than 90% bald area) and in the remaining patients scalp involvement was between 40% and 90%. The following three factors were found to be of prognostic significance: type of alopecia areata as documented before treatment, duration of the disease before therapy, and presence of nail changes. Other factors such as age at onset, sex, presence of atopic features, the extent of variation in the range of diphenylcyclopropenone concentrations during treatment, and sleep disturbances caused by pruritus did not influence the prognosis significantly.

Adolescent↗
PubMed1991

Treatment of alopecia areata with diphenylcyclopropenone.

One hundred thirty-nine patients with severe alopecia areata (the majority with the subtotal, total, or universalis type) were treated with topical immunotherapy (diphenylcyclopropenone). Patients were initially treated unilaterally; the other side of the scalp served as a control. In 50.4% of the patients the response was either excellent (total regrowth) or satisfactory (subtotal regrowth with only a few remaining bald patches). The most frequent side effects were eczematous reactions with blistering, spreading of the induced contact eczema, and sleep disturbances.

Administration, Topical↗
PubMed1991

How many epidermal nevus syndromes exist? A clinicogenetic classification.

The term epidermal nevus syndrome is not suitable to describe an entity because there are different birth defects associated with epidermal nevi. A new classification is proposed to distinguish three well-defined syndromes, each recognizable by a different type of nevus. The sebaceous nevus syndrome and the Proteus syndrome are most likely due to autosomal lethal mutations and therefore always occur sporadically, whereas the CHILD syndrome can be transmitted from a mother to her daughter as an X-linked dominant, male-lethal trait. Moreover, the nevus comedonicus syndrome can be regarded as an entity closely related to this group of disorders. It may represent another autosomal lethal mutation that survives by mosaicism. In addition, several less well-defined phenotypes associated with epidermal nevi are reviewed. Some of them are regarded as entities in limbo.

Abnormalities, Multiple↗
PubMed1991

Clinical and immunohistochemical responses of plantar warts to topical immunotherapy with diphenylcyclopropenone.

A 30-year-old man with bilateral plantar warts of the mosaic type which had been resistant to standard treatment modalities was treated with diphenylcyclopropenone. After 10 weeks, the treated warts had disappeared; the untreated warts, although showing some involution, still persisted. The untreated warts, serving as a control to prove the effectiveness of topical immunotherapy, responded likewise to subsequent treatment with diphenylcyclopropenone. Wart regression was reflected histopathologically by decreases in acanthosis, papillomatosis, granular vacuolation, and hyperkeratosis. Immunohistochemically, Ki-67 expression was markedly reduced, and a reversal of the CD4/CD8 ratio was seen. These findings suggest a major role of a cell-mediated immune response in the spontaneous resolution of warts.

Administration, Cutaneous↗
PubMed1991

Ichthyosis bullosa of Siemens responds well to low-dosage oral retinoids.

Two patients with ichthyosis bullosa of Siemens (IBS) and one patient with bullous ichthyosiform erythroderma of Brocq (BIE) were treated with etretinate. Two additional patients with IBS received acitretin. All the patients had a marked improvement when on retinoids and the maintenance dose required was for IBS 10-25 mg per day. The patient with BIE was on a maintenance dose of 40-60 mg per day.

Acitretin↗