Keratosis Pilaris Atrophicans Research Articles

ATROPHODERMA VERMICULATUM: A RARE CASE WITH ISOLATED PRESENTATION

Atrophoderma vermiculata is a rare and benign follicular disorder of the skin occurs due to abnormal keratinisation in follicular pilosebaceous unit. It presents as multiple, symmetric, depressed pitted scars with reticular/ honeycomb atrophy of skin. It usually presents in face but in our case lesions are seen over chest, back, shoulder and gluteal region. The onset is mostly sporadic or sometimes inherited Autosomal Dominant. It is a clinical variant of Keratosis Pilaris Atrophicans. This condition is difcult to treat cosmetically. Hereby we report a rare case of Atrophoderma Vermiculatum with isolated presentation and different site involvement, treated with oral Isotretinoin showing good response

Keratosis follicularis spinulosa decalvans-like cicatricial alopecia in a patient with cardiofaciocutaneous syndrome

We describe a patient with the keratosis pilaris atrophicans variant of cicatricial alopecia in conjunction with cardiofaciocutaneous syndrome.

Keratosis pilaris atrophicans faciei: An observational, descriptive, retrospective clinical study.

Keratosis pilaris atrophicans faciei (KPAF) is a hereditary follicular disorder, an atrophicans subtype of keratosis pilaris (KP) with a highly elusive diagnosis. Clinically, it presents with follicular, horny papules surrounded by an erythematous halo of the cheeks, forehead, chin and eyebrows, and it is followed by a gradual hair loss on the lateral margins of the eyebrows. The onset is as early as a few months after birth, but it is mainly diagnosed in children and adolescents and it can persist through adulthood. At present, the natural progression of the disease is poorly understood, which makes a correct diagnosis highly unlikely. The aim of the present study was to describe the clinical characteristics of KPAF in patients encountered in daily practice, in order to find common characteristics that may aid in the earlier recognition of the disease. An observational, descriptive, retrospective study was performed on 14 patients diagnosed with KPAF between January 2000 and December 2020. The mean age at diagnosis was 17.04 years and the onset of clinical symptoms appeared at a mean age of 4.85 years. The first clinical symptom was KP involving either the upper or lower limbs, or both. Then, erythema of the face appeared at a mean age of 7.21 years, keratotic papules on the face at a mean age of 8.35 years and, finally, loss of hair on the lateral margins of the eyebrows at a mean age of 14 years. The patients also had concomitant xerosis cutis, multiple mole syndrome, acne, contact dermatitis and Laugier-Hunziker syndrome. Evidence of disease progression, associations, as well as efficacious treatment measures are lacking. An earlier diagnosis potentially allows for a more efficacious, targeted treatment option. Either topical emollients, systemic retinoids or laser therapy may prove effective for each patient individually.

Keratosis pilaris

Keratosis pilaris is characterized by small bumps around hair follicles. Keratosis pilaris simplex results in gray and keratotic papules mainly on the arms, thighs and buttocks. It mainly affects women. Keratosis pilaris rubra often results in keratosis pilaris atrophicans. Common variants of keratosis pilaris include: ulerythema ophryogenes, atrophoderma vermiculata, Siemens alopecia. Keratosis pilaris is a genetic disorder and can occur in association with other hereditary diseases such as Noonan syndrome or vitamin disorders. Treatment is mainly based on emollients and keratolytics, but they have only a suspensive effect. We report the case of a 30 year old woman with a personal and family history of atopy, presenting with diffuse keratotic papules on the trunk. The remainder of the physical examination revealed no genetic abnormality. Treatment was based on emollients and keratolytics with slight improvement.

Keratosis Pilaris and its Subtypes: Associations, New Molecular and Pharmacologic Etiologies, and Therapeutic Options.

Keratosis pilaris is a common skin disorder comprising less common variants and rare subtypes, including keratosis pilaris rubra, erythromelanosis follicularis faciei et colli, and the spectrum of keratosis pilaris atrophicans. Data, and critical analysis of existing data, are lacking, so the etiologies, pathogeneses, disease associations, and treatments of these clinical entities are poorly understood. The present article aims to fill this knowledge gap by reviewing literature in the PubMed, EMBASE, and CINAHL databases and providing a comprehensive, analytical summary of the clinical characteristics and pathophysiology of keratosis pilaris and its subtypes through the lens of disease associations, genetics, and pharmacologic etiologies. Histopathologic, genomic, and epidemiologic evidence points to keratosis pilaris as a primary disorder of the pilosebaceous unit as a result of inherited mutations or acquired disruptions in various biomolecular pathways. Recent data highlight aberrant Ras signaling as an important contributor to the pathophysiology of keratosis pilaris and its subtypes. We also evaluate data on treatments for keratosis pilaris and its subtypes, including topical, systemic, and energy-based therapies. The effectiveness of various types of lasers in treating keratosis pilaris and its subtypes deserves wider recognition.

Advanced Whole-Genome Sequencing and Analysis of Fetal Genomes from Amniotic Fluid

Amniocentesis is a common procedure, the primary purpose of which is to collect cells from the fetus to allow testing for abnormal chromosomes, altered chromosomal copy number, or a small number of genes that have small single- to multibase defects. Here we demonstrate the feasibility of generating an accurate whole-genome sequence of a fetus from either the cellular or cell-free DNA (cfDNA) of an amniotic sample. cfDNA and DNA isolated from the cell pellet of 31 amniocenteses were sequenced to approximately 50× genome coverage by use of the Complete Genomics nanoarray platform. In a subset of the samples, long fragment read libraries were generated from DNA isolated from cells and sequenced to approximately 100× genome coverage. Concordance of variant calls between the 2 DNA sources and with parental libraries was >96%. Two fetal genomes were found to harbor potentially detrimental variants in chromodomain helicase DNA binding protein 8 (CHD8) and LDL receptor-related protein 1 (LRP1), variations of which have been associated with autism spectrum disorder and keratosis pilaris atrophicans, respectively. We also discovered drug sensitivities and carrier information of fetuses for a variety of diseases. We were able to elucidate the complete genome sequence of 31 fetuses from amniotic fluid and demonstrate that the cfDNA or DNA from the cell pellet can be analyzed with little difference in quality. We believe that current technologies could analyze this material in a highly accurate and complete manner and that analyses like these should be considered for addition to current amniocentesis procedures.

Lichenoid folliculitis: A unifying concept.

Skin diseases presenting with keratotic papules, atrophy, cicatricial alopecia and/or "lichenoid" histopathologic changes have been described under at least 30 names. This family of diseases contains 2 subgroups, largely based on clinical features: keratosis pilaris atrophicans (KPA; including keratosis pilaris atrophicans faciei/ulerythema ophryogenes, atrophoderma vermiculatum, and keratosis follicularis spinulosa decalvans); and the lichen planopilaris (LPP) subgroup (including LPP, frontal fibrosing alopecia, Graham-Little-Piccardi-Lassueur Syndrome and fibrosing alopecia in a pattern distribution). An interface dermatitis with lichenoid inflammation is characteristic of the LPP group of disorders, but the literature provides scant information about the histopathology of the KPA group. Our experience has been that the 2 subgroups show a unifying histologic similarity as well as considerable clinical overlap. Because these conditions overlap clinically and histologically, we propose that the term lichenoid folliculitis (LF) be used to refer to this group of diseases, thus simplifying cumbersome nomenclature and highlighting the possibility of shared pathogenesis and treatment options.

Overlap Between Ulerythema Ophryogenes and Keratosis Follicularis Spinulosa Decalvans: a Case Report

Abstract Ulerythema ophryogenes and keratosis follicularis spinulosa decalvans are rare folliculocentric keratotic disorders, from the group of follicular genokeratoses, characterized by keratosis pilaris atrophicans: follicular keratotic papules, sometimes with surrounding erythema, which eventually result in fibrosis, atrophy, progressive scarring and permanent hair loss. Ulerythema ophryogenes begins at birth or soon thereafter; it involves the lateral eyebrows, spreads medially and eventually affects the entire eyebrows, cheeks, and less frequently, forehead and asjecebt scalp. Involvement of the scalp has apparently not been reported in cases in which the eyebrows were predominantly involved. In addition to sporadic cases, ulerythema ophryogenes has been reported among relatives. Keratosis follicularis spinulosa decalvans is also a genetically heterogeneous syndrome which begins in infancy or childhood by involving hair bearing skin, especially the scalp; rarely it is confined to the face involving only eyebrows and eyelashes, but affects predominantly the scalp, leading to severe progressive cicatricial alopecia. Both conditions tend to progress until puberty. The authors present a case of an otherwise healthy 19-year-old male patient, with absence of lateral eyebrows since childhood, which spread symmetrically and medially, until puberty affecting the entire eyebrows, whereas the eyelashes were completely spared. On examination, skin findings on the face, trunk and extremities pointed to ulerythema ophryogenes: apart from hair loss, the lateral eyebrows were highly erythematous; a great number of disseminated follicular, slightly keratotic papules (keratosis pilaris) pin- or match-head sized, were seen on the trunk, extensor surface of the arms and legs, as well as the buttock, and on palpation the skin felt like a “nutmeg grater”. However, follicle-based erythematous papules (focal patchy alopecia) were found not only along the eyebrows but also partly in the parietal capillitium forming focal patchy alopecia, which is a finding characteristic for keratosis follicularis spinulosa decalvans; the histopathological analysis of the biopsy specimens taken from the parietal capillitium has confirmed the clinical diagnosis. Cytogenetic analysis showed no karyotypic abnormalities. Family history showed that the patient’s mother and maternal grandfather also suffered from hair loss especially of the lateral eyebrows. This paper presents an overlap between two rare follicular genokeratoses in a young male with a positive family history, who presented with ulerythema ophryogenes involving not only the eyebrows, but also the scalp, in the form of parietal, focal cicatricial patchy alopecia.

Keratosis Follicularis Spinulosa Decalvans: Diagnosis and Therapeutic Evaluation.

Keratosis Follicularis Spinulosa Decalvans (KFSD) is an X-linked genodermatosis characterized by scarring alopecia and follicular hyperkeratosis. This condition mainly affects males with females being carriers and will have milder symptoms. We present a family of two siblings of KFSD, boy had nine years and girl had five years old. This genodermatosis often starts at infancy or early childhood. Keratosis pilaris atrophicans (KPA) is the umbrella term for a group of three rare and distinct clinical entities representing the scarring types of keratosis pilaris.

Ulerythema Ophryogenes, A Rarely Reported Cutaneous Manifestation of Noonan Syndrome: Case Report and Review of the Literature

Ulerythema ophryogenes (also known as keratosis pilaris atrophicans faciei) is a rarely reported cutaneous manifestation of Noonan syndrome. Recognizing ulerythema ophryogenes as a cutaneous association in Noonan syndrome may aid in the diagnosis of this relatively common genetic condition. We present a case of a patient with Noonan syndrome and ulerythema ophryogenes associated with a SOS1 mutation and review the literature on this association. To the best of our knowledge, this is the second case of Noonan syndrome proven to be due to an SOS1 mutation in which ulerythema ophryogenes was clinically recognized and specifically diagnosed. The presence of ulerythema ophryogenes in a patient with Noonan syndrome increases the likelihood of a SOS1 mutation. Further reports by dermatologists and medical geneticists documenting ulerythema ophryogenes and not just descriptions of sparse or absent eyebrows will help support this genotype-phenotype correlation.

Keratosis pilaris rubra and keratosis pilaris atrophicans faciei treated with pulsed dye laser: report of 10 cases

Keratosis pilaris rubra and keratosis pilaris atrophicans faciei treated with pulsed dye laser: report of 10 cases

Eyebrow reconstruction in dormant keratosis pilaris atrophicans

A novel and successful case of eyebrow reconstruction, in dormant keratosis pilaris atrophicans, is presented. Keratosis pilaris atrophicans is a benign hereditary disorder of unknown aetiology. Grouped keratotic follicular papules and perifollicular erythema affect the cheeks and eyebrows, with a subsequent atrophic stage that results in scarring and alopecia. It often presents during early infancy with remission during adulthood. A 33 year old man presented with scarring and alopecia of the eyebrows and was followed over a total 4 year period during which reconstruction was achieved using individual hair follicle micrografts. Composite scalp grafts and flaps, more often than hair follicle micrografting techniques, are described in the literature for reconstruction of the eyebrows in a range of conditions. This case provides an encouraging example of successful micrografting in dormant inflammatory cutaneous disease.

Keratosis pilaris rubra and keratosis pilaris atrophicans faciei treated with pulsed dye laser: report of 10 cases

Keratosis pilaris rubra (KPR) and keratosis pilaris atrophicans faciei (KPAF) are both keratinization disorders characterized by erythema and keratotic follicular papules usually located on cheeks, forehead, chin and eyebrows. Topical keratolytics, vitamin D3 analogues, antibiotics, topical and oral retinoids have been used with limited results. As this condition can be socially very limiting, the need for an effective treatment has led to the use of other technologies such as pulsed dye laser (PDL) or intense pulsed light. The aim of this study was to assess the efficacy and safety of PDL in patients with KPR or KPAF. Ten patients with KPR or KPAF were treated with two to seven sessions of PDL at 595-nm wavelength. Laser therapy was performed using a spot size of 7 or 10mm, a pulse duration of 0.5 or 1.5ms and a fluence from 5 to 9J/cm(2) . Two dermatologists evaluated treatment effectiveness by means of photographs of the patients before starting and after finishing the therapy. Complete resolution of erythema was achieved in three patients; clearance of erythema was >75% in the other seven patients. Transient purpura was present in all patients for about 2weeks and one patient presented postinflammatory hyperpigmentation for 7months. We consider that PDL is a good option for the treatment of KPR and KPAF. A marked reduction in erythema is achieved in all patients with a low incidence of side effects.

Keratosis Pilaris Rubra

Keratosis pilaris is a common skin disorder of childhood that often improves with age. Less common variants of keratosis pilaris include keratosis pilaris atrophicans and atrophodermia vermiculata. In this case series from dermatology practices in the United States, Canada, Israel, and Australia, the clinical characteristics of 27 patients with keratosis pilaris rubra are described. Marked erythema with follicular prominence was noted in all patients, most commonly affecting the lateral aspects of the cheeks and the proximal arms and legs, with both more marked erythema and widespread extent of disease than in keratosis pilaris. The mean age at onset was 5 years (range, birth to 12 years). Sixty-three percent of patients were male. No patients had atrophy or scarring from their lesions. Various treatments were used, with minimal or no improvement in most cases. Keratosis pilaris rubra is a variant of keratosis pilaris, with more prominent erythema and with more widespread areas of skin involvement in some cases, but without the atrophy or hyperpigmentation noted in certain keratosis pilaris variants. It seems to be a relatively common but uncommonly reported condition.

Keratosis pilaris and keratosis pilaris atrophicans faciei

Keratosis pilaris and ulerythema ophryogenes (keratosis pilaris atrophicans faciei) are hereditary disorders with altered follicular keratinization that show follicular, horny papules surrounded by an erythematous halo. Ulerythema ophryogenes is an uncommon variant of keratosis pilaris characterized by erythematous follicular papules of the eyebrows and cheeks followed by a gradual loss of hair. On the background of 15-year-old boy who presented with keratosis pilaris and ulerythema ophryogenes, we discuss the various clinical manifestations of keratosis pilaris.

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.

Erythromelanosis Follicularis Faciei: First Case Report from Saudi Arabia

Erythromelanosis Follicularis Faciei: First Case Report from Saudi Arabia

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.

Folliculitis Ulerythematosa Reticulata (Atrophoderma Vermiculata): Early Detection of a Case with Unilateral Lesions

Abstract: A 5‐year‐old girl had a unilateral rash on her right cheek. Histologic investigations showed aberrant pilosebaceous units and elastotic material in the papillary dermis. Unilateral folliculitis ulerythematosa reticulata (a variant of keratosis pilaris atrophicans) is strikingly rare, and its very early clinical and microscopic changes are demonstrated in this case report.

Clinical Findings, Cutaneous Pathology, and Response to Therapy in 21 Patients With Keratosis Pilaris Atrophicans

Keratosis pilaris atrophicans defines a group of cutaneous disorders characterized by follicular hyperkeratosis and scarring. X-linked dominant inheritance has recently been reported in a Dutch family with a form of keratosis pilaris atrophicans defined as keratosis follicularis spinulosa decalvans, with males more severely affected and having corneal involvement. The clinical manifestations observed in different families by others and ourselves did not follow that pattern, suggesting genetic heterogeneity. We report our experience with 21 unrelated individuals. There were 15 male and six female patients whose onset of the skin disease was in early childhood but with scalp involvement occurring in the teen years. The cutaneous lesions consisted of follicular papules with scalp involvement present in eight individuals. Half the women had scalp involvement, and one female and one male had eye changes. Familial involvement was observed in three patients and was compatible with dominant inheritance. Histopathologic examination revealed hyperkeratosis of the upper follicle with an inflammatory response that resulted in follicular destruction. Response to therapy including keratolytics, antibiotics, corticosteroids and retinoids was limited. Our findings support the hypothesis that there is genetic and clinical heterogeneity among the disorders represented by the term keratosis pilaris atrophicans. The cause of these diseases may be a disorder of the keratinocyte, which is responsible for inducing both the hyperkeratosis and inflammatory changes.