Rubra Pilaris Research Articles

Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: An autopsy study

Many phenotypic manifestations have been reported in cardiofaciocutaneous (CFC) syndrome, but none, to date, are pathognomonic or obligatory. Previous histopathological studies reported findings in skin and hair; no autopsy studies have been published. We report the clinical and autopsy findings of a 7-year-old boy with severe CFC syndrome and malnutrition of psychosocial origin. Manifestations of CFC, reported previously, included macrocephaly and macrosomia at birth; short stature; hypotonia; global developmental delays; dry, sparse thin curly hair; sparse eyebrows and eyelashes; dilated cerebral ventricles; high cranial vault; bitemporal constriction; supraorbital ridge hypoplasia; hypertelorism; ptosis; exophthalmos; depressed nasal bridge; anteverted nostrils; low-set, posteriorly-rotated, large, thick ears; decayed, dysplastic teeth; strabismus; hyperelastic skin; wrinkled palms; keratosis pilaris atrophicans faciei; ulerythema ophryogenes; hyperkeratosis; gastroesophageal reflux; and tracheobronchomalacia. Additional findings, not previously reported, include islet cell hyperplasia, lymphoid depletion, thymic atrophy and congenital hypertrophy of peripheral nerves with onion bulb formations. Although the islet cell hyperplasia, lymphoid depletion, and thymic atrophy are nonspecific findings that may be associated with either CFC or malnutrition, the onion bulb hypertrophy is specific for a demyelinating-remyelinating neuropathy. These findings implicate congenital peripheral neuropathy in the pathogenesis of the developmental delays, feeding difficulties, respiratory difficulties, ptosis and short stature in this case. Additional studies of other cases of CFC are needed.

Treatment of keratosis pilaris atrophicans with the pulsed tunable dye laser.

Few therapies are currently available to treat keratosis pilaris atrophicans (KPA), a spectrum of disorders which includes ulerythema ophryogenes and atrophoderma vermiculata. To evaluate the response of KPA to treatment with the pulsed dye laser (PDL) with regard to improvements in erythema and skin roughness, treatment tolerability, and side effects. Treatment of all facial areas involved with KPA with the PDL at 585 nm was evaluated in 12 patients. Prior to and after each treatment skin erythema was estimated using an erythema meter, and skin roughness was analysed using micrometer evaluation of a skin surface biopsy taken from the same mapped area and analysed by computer to calculate the roughness profile. Patients received 2 to 8 treatments with the PDL with energies ranging from 6.0 to 7.5 J/cm2. Clinical improvement was noted in all patients with significant reduction in erythema scores. Pre-treatment scores ranged from 4 to 13 (mean 8.3) and post-treatment 0 to 8 (mean 3.1) (P < 0.05). Improvements in skin roughness were clinically apparent in all but two patients, but these were not significant on evaluation of skin surface biopsies. Treatment was generally well tolerated, and side effects other than local pain during treatment were very few. PDL treatment appears to be a safe and effective treatment for the erythema associated with KPA but does not give significant improvement in associated skin roughness.

Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation

Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation

Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation

We present a patient with partial monosomy of the short arm of chromosome 18 caused by de novo translocation t(Y;18) and a generalized form of keratosis pilaris (keratosis pilaris affecting the skin follicles of the trunk, limbs and face-ulerythema ophryogenes). Two-color FISH with centromere-specific Y and 18 DNA probes identified the derivative chromosome 18 as a dicentric with breakpoints in p11.2 on both involved chromosomes. The patient had another normal Y chromosome. This is a third report the presence of a chromosome 18p deletion (and first case of a translocation involving 18p and a sex chromosome) with this genodermatosis. Our data suggest that the short arm of chromosome 18 is a candidate region for a gene causing keratosis pilaris. Unmasking of a recessive mutation at the disease locus by deletion of the wild type allele could be the cause of the recessive genodermatosis.

Generalised keratosis suprafollicularis with ulerythema ophryogenes associated with Ullrich-Turner syndrome

Generalised keratosis suprafollicularis with ulerythema ophryogenes associated with Ullrich-Turner syndrome

Ulerythema Ophryogenes and Keratosis Pilaris in a Child with Monosomy 18p

We report a 13-year-old boy with deletion of the short arm of chromosome 18 and follicular, partially inflammatory, keratotic papules of the eyebrows, foreskin, and cheeks (ulerythema ophryogenes) as well as the shoulders, upper back, upper arms, and thighs (keratosis pilaris), initially diagnosed as atopic dermatitis. Over 100 patients with this genetic defect have been reported, and the 18p- syndrome is considered one of the most frequently occurring deletion syndromes. However, ulerythema ophryogenes and keratosis pilaris have not been described in any of these patients, although the association of the latter with other genetic abnormalities is well known. Keratosis pilaris is a relatively common genodermatosis of ectodermal origin, frequently occurring with ichthyosis or atopy; concomitance with ulerythema ophryogenes has also been reported. The association of chromosome 18p deletion defect and ulerythema ophryogenes may be helpful in future attempts to localize the gene defect responsible for follicular genokeratoses.

Skin manifestations of cardio-facio-cutaneous syndrome

The recently described cardio-facio-cutaneous syndrome is within the spectrum of multiple congenital anomalies-mental retardation syndromes. We describe two additional cases and review 22 previously reported cases. Our two patients had many of the cardinal features of the disorder: a peculiar craniofacial appearance with sparse curly hair, low-set posteriorly rotated ears, moderate to severe mental retardation, heart defects, and cutaneous abnormalities such as ichthyosis, widespread keratosis pilaris, keratosis pilaris atrophicans faciei, and palmoplantar keratoderma.

The Association of Keratosis Pilaris Atrophicans with Hereditary Woolly Hair

Abstract: We describe a father and his daughter with keratosis pilaris atrophicans facei, ulerythema ophryogenes, and hereditary woolly hair, an association that has been described only once in the literature.

(61) Ulerythema ophryogenes in Noonan's syndrome

(61) Ulerythema ophryogenes in Noonan's syndrome

Ulerythema ophryogenes with multiple congenital anomalies

Ulerythema ophryogenes, a rare dermatologic disorder characterized by inflammatory keratotic facial papules that may result in scars, atrophy, and alopecia, can occur in association with other congenital anomalies. A case reported here was accompanied by an unusual facies, developmental delay, central nervous system abnormalities, dental anomalies, and undescended testes. There was no response of the cutaneous lesions to topical keratolytics, topical tretinoin, or a short course of oral isotretinoin.

Ichthyosis Follicularis With Alopecia and Photophobia

We treated two unrelated boys with ichthyosis follicularis, a rare skin disorder characterized by extensive noninflammatory spiny follicular hyperkeratoses, severe photophobia, and generalized noncicatricial alopecia. This disorder must be differentiated from keratosis follicularis spinulosa decalvans; ulerythema ophryogenes; keratosis pilaris rubra atrophicans faciei; atrichia with papular lesions; atrophodermia vermiculata; and keratitis, ichthyosis, and deafness syndrome, all of which share some clinical features. Ichthyosis follicularis with alopecia and photophobia appears to be a familial disorder, but too few cases have been reported to establish the exact mode of inheritance.

Facial Burning and Scarring in a Child

REPORT OF A CASE A 6-year-old boy presented with a three-year history of burning sensation and pruritus. The areas of involvement included the face, neck, and arms; symptoms worsened after periods of sun exposure. There was no history of rash, urticaria, petechiae, or edema. The patient was taking no medications, and his medical history and family history were unremarkable. Cutaneous examination revealed multiple 1- to 2-mm depressed scars on both cheeks (Fig 1). No erythema, blisters, or other abnormalities were noted. QUESTIONS For each of the following multiple-choice questions, choose the best answer(s) (answers follow discussion). What is your diagnosis? Hydroa vacciniforme Lupus erythematosus Polymorphous light eruption Ulerythema ophryogenes Erythropoietic protoporphyria Hutchinson's summer prurigo A biopsy specimen was obtained from the patient's forearm (Fig 2). Based on the clinical and histologic findings, which would be the most appropriate laboratory test(s) to

Keratosis pilaris atrophicans faciei (Ulerythema ophryogenes): a cutaneous marker in the Noonan syndrome

Five cases are reported of Noonan's syndrome, all of which presented keratosis pilaris atrophicans faciei (ulerythema ophryogenes). This dermatosis fulfils the criteria mentioned by Noonan & Ehmke (1963) as a pointer for the investigation of cardiac anomalies, especially of the pulmonary artery.

Ulerythema ophryogenes and atopy.

In 15 patients from five different families with ulerythema ophryogenes strong evidence for an atopic diathesis were found. Most patients had a personal history of atopic dermatitis, hay fever, or asthma and many of their family were atopic. They had strongly positive reactions on intracutaneous injection of inhalation allergens, except two who had marked blood and tissue eosinophilia. From the genealogic table of one family it is evident that ulerythema ophryogenes, like keratosis pilaris and atopy, depends on an irregular dominant gene. The genetic defect responsible for ulerythema ophryogenes might be identical or closely linked with the defect responsible for atopy.

ULERYTHEMA OPHRYOGENES; REVIEW AND REPORT OF A CASE. DISCUSSION OF RELATIONSHIP TO CERTAIN OTHER SKIN DISORDERS AND ASSOCIATION WITH INTERNAL ABNORMALITIES.

This child has ulerythema ophryogenes which began to be manifest at birth by absence of eyebrow hair and the presence of erythema in the supraorbital areas. While there was an appearance of a few normal eyebrow hairs later, atrophy and sclerosis have been slowly progressive. This patient exemplifies the association of various other ectodermal defects: dentigenous cyst, red keratosis pilaris of Bazin, typical keratosis pilaris of the extremities, and an area of the chin simulating lichen spinulosus. In addition, the child exhibits atopy, an emotional disturbance, large venous lakes in the midportion of the parietal bones, and probably a deficient absorption of vitamin A. There was no improvement in the skin disease when the serum vitamin A levels were kept elevated for six months by means of intramuscular injections of vitamin A.

Treatment for ulerythema ophryogenes with hydrocortisone ointment.

Treatment for ulerythema ophryogenes has been unsatisfactory. Although local applications of salicylic acid, resorcinol, and the mercurials have been advocated, few, if any, cases respond. Recently, a patient was treated with hydrocortisone ointment with spectacular results. REPORT OF A CASE R. L., aged 10 years, presented herself to me on July 23, 1954, because of an eruption and alopecia of the eyebrow areas. The affection began shortly after birth and progressively increased in severity. On examination, erythema, horny follicular papules, small depressed scars, and partial alopecia were observed in the eyebrow areas. The few hairs present were thin, blond, and broken off close to the surface. Previous treatment consisted of various local applications, and ultraviolet therapy. The use of hydrocortisone ointment (2.5%) was initiated. Diminution of erythema was noted within three weeks. On Sept. 15, numerous lanugo hairs were visible. On Oct. 25, the hairs had become thicker, darker, and

Ulerythema ophryogenes (Unna-Taenzer).

Ulerythema ophryogenes (Unna-Taenzer)¹is a comparatively rare ectodermal anomaly of the skin. A search of the available American dermatologic literature failed to disclose any published papers on this subject except for cases reported in Society Transactions by Niles,²McDonald,³Sulzberger,⁴Feit,⁵Jamieson,⁶Pels,⁷Netherton,⁸Rosen,⁹Williams,¹⁰Levin,¹¹ Rosen,¹²and Clark.¹³A complete review of the world literature on ulerythema ophryogenes up to 1931, presented by Brünauer,¹⁴appeared in Jadassohn's Handbuch. We recently observed ulerythema ophryogenes in a young child, and a brief report of this case is deemed worthy of publication. Ulerythema ophryogenes. <h3>REPORT OF A CASE</h3> T. U., a 6-year-old white boy, had had an eruption of the eyebrows since 2 years of age. He weighed 11¼ lb. (5.1 kg.) at birth. He had had bronchitis at the age of 2 years and again at