Presentation
In the present study, the coding sequence of the hairless gene was compared by reverse transcription-PCR in fibroblast cell lines derived from an affected patient and an unrelated individual. [ncbi.nlm.nih.gov]
The case present- ed here is an unusual presentation of this disease, with alopecia and with papules limited only ... [mafiadoc.com]
Unusual presentation of atrichia with papular lesions. Indian J Dermatol 2015;60:107 How to cite this URL: Robati RM, Zereh Posh FB, Sakoei S, Ranjbar M. Unusual presentation of atrichia with papular lesions. [e-ijd.org]
Entire Body System
- Heat Intolerance
There was no report of heat intolerance, papular lesions, milia, palmo-plantar keratoderma, or teeth and nails abnormalities. [cags.org.ae]
Musculoskeletal
- Bone Pain
She did not give a history of delayed milestones, decreased sweating, dimness of vision, decreased hearing, seizures, atopy, or bone pains. She was born of a second degree consanguineous marriage. Her siblings were asymptomatic. [ijdvl.com]
There was no history of delayed milestones, hypohidrosis, bone pains, hearing loss, seizures or similar illness in family. There was alopecia over the scalp, axillary and pubic area. [ncbi.nlm.nih.gov]
- Short Arm
Discussion Congenital APL is one of the rare causes of generalized alopecia and is caused by a mutation in the human hairless gene, which is situated on chromosome 8 (short arm) (2). [mafiadoc.com]
arm of chromosome 8 in this kindred12 J AM ACAD DERMATOL VOLUME 42, NUMBER 6 Sprecher et al 979 Fig 1. [kundoc.com]
Skin
- Normal Hair
Abstract Atrichia with papular lesions (APL) is a rare form of hair loss with an autosomal recessive mode of inheritance that is characterized by the absence of normal hair follicles, and formation of intradermal cystic structures. [ncbi.nlm.nih.gov]
Heterozygous individuals have normal hair and are clinically indistinguishable from genotypically normal persons. [2] This condition has been noted for decades among gypsies known as Irish Travelers, who have existed as a distinct indigenous ethnic minority [ijdvl.com]
Absence of secondary axillary, pubic, or body hair growth and/ or sparse eyebrows and eyelashes 3. Normal growth and development, including normal bones, teeth, nails and sweating 4. Whitish-hypopigmented streaks on the scalp 5. [cyberleninka.org]
Two other siblings had normal hair. Their condition was unresponsive to steroid therapy. Physical growth was normal. Teeth, nail, mucosa, palms, and soles were normal. There was no bony abnormality or any systemic involvement. [idoj.in]
- Sparse Eyebrows
Examination of the fifteen individuals alive revealed absent hair from the scalp and eyebrows, absent pubic and axillary hair, and sparse eyelashes on the upper eyelid in 10 subjects. [cags.org.ae]
A few scattered hairs may remain in the eyelash and eyebrow regions. Multiple keratinous follicular papules appear later in life (generally in the first decade), especially on the face, scalp, and extremities. [aocdgrandrounds.com]
*Sparse eyebrows and eyelashes. *Lack of secondary axillary, pubic, or body hair. *Papules – few to many distributed over some or all of the following areas: scalp, cheeks, arms, elbows, thighs and knees. [jemds.com]
[…] mutation(s) in the human hairless gene (HR) through genetic testing - clinical and/or molecular exclusion of vitamin-D-dependent rickets Minor criteria include: - family history of consanguinity - absence of secondary axillary, pubic, or body hair and/or sparse [aocd-grandrounds.org]
The presence of a family history, history of consanguinity, and sparse eyebrows and eyelashes at the time of birth pointed to the diagnosis of atrichia congenita. [idoj.in]
- Sparse Hair
A 9-year-old boy presented with sparse hair over his body and with a history of losing his hair soon after birth. Multiple skin-colored papules were observed over the scalp. [ncbi.nlm.nih.gov]
- Sparse Hair
A 9-year-old boy presented with sparse hair over his body and with a history of losing his hair soon after birth. Multiple skin-colored papules were observed over the scalp. [ncbi.nlm.nih.gov]
- Sparse to No Eyebrows
The presence of a family history, history of consanguinity, and sparse eyebrows and eyelashes at the time of birth pointed to the diagnosis of atrichia congenita. [idoj.in]
All Zearalenone supplier individuals had been determined by generalized body and head Zearalenone supplier alopecia, sparse lashes and eyebrows in conjunction with papules. [cdkkinase.com]
Psychiatrical
- Suggestibility
This result suggests that the TRID2 domain either is dispensable in the hr-TR interaction or is not involved in the pathogenesis of APL. [ncbi.nlm.nih.gov]
Neurologic
- Delayed Milestone
Ectodermal dysplasia was excluded as there was no history of delayed milestones or loss of sweating. Teeth, nails, mucosa (ectodermal components), palms, and soles were normal. [idoj.in]
She did not give a history of delayed milestones, decreased sweating, dimness of vision, decreased hearing, seizures, atopy, or bone pains. She was born of a second degree consanguineous marriage. Her siblings were asymptomatic. [ijdvl.com]
Workup
If any associations are identified, workup for a syndromic cause should be performed and genetic counseling may be appropriate depending on the diagnosis ( 96 ). For many of these conditions, there is currently no effective treatment. [frontiersin.org]
Other Pathologies
- Lymphocytic Infiltrate
infiltrate [ Figure 3 ]. [ncbi.nlm.nih.gov]
The skin biopsy from a papule on the elbow revealed multiple mid-dermal keratin cysts with granular layer and laminated keratin in the mid-dermis with sparse peri-follicular lymphocytic infiltrate [Figure 3]. [e-ijd.org]
Histopathology revealed normal epidermis, remnants of hair follicle along with perifollicular lymphocytic infiltrate and fibrosis in dermis (7). [jemds.com]
Treatment
Some reports show that etanercept may have significant benefit in the treatment of psoriatic nail disease, although not approved for its treatment (as only manifestation).11-41 Copyright of Indian Journal of Dermatology, Venereology & Leprology is the [cyberleninka.org]
Accurate discrimination between APL and alopecia universalis should prevent unnecessary treatment of patients affected with APL. [ncbi.nlm.nih.gov]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Prognosis
Diagnosis treatment fruits to eat to avoid hair loss combing prognosis of scarring (cicatricial) alopecia a hair loss Any hair regrowth this would lead to an unlikely diagnosis of cicatricial alopecia of the hairline often associated with loss of ones [robinwoodplus.eu]
[…] et Adriatica # 3 Agnieszka Owczarczyk-Saczonek, Aleksandra Znajewska-Pander, Witold Owczarek, Agata Maciejewska-Radomska, Waldemar Placek Annular pustular psoriasis (APP) is a rare form of pustular psoriasis with a chronic relapsing course and a good prognosis [readbyqxmd.com]
Prognosis is generally good with most patients regrowing hair within the year, though at a slow rate of approximately 1 cm/month ( 19 ). [frontiersin.org]
Etiology
The causes of mental retardation have been found to have a definite etiological basis, which ... [scholar.ppu.edu]
Approach to common etiologies of hair loss in children and adolescents. Table 1. Important clinical findings of alopecias to aid in diagnosis. [frontiersin.org]
September 2018: Acta Dermatovenerologica Alpina, Panonica, et Adriatica # 16 Funda Tamer, Fatma Gülru Erdoğan, Didem Dinçer Rota, Dilsun Yıldırım Behçet's disease is a rare disorder of unknown etiology that is classified as a systemic vasculitis. [readbyqxmd.com]
Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known. [howlingpixel.com]
Epidemiology
Previous studies found conflicting results about the epidemiology of AA. [medworm.com]
Association Between Psoriasis and Sexual and Erectile Dysfunction in Epidemiologic Stud... Preview https://www.ncbi.nlm.nih.gov/pubmed/30304327 JAMA Dermatology; Molina-Leyva A, Salvador-Rodriguez L et. al. [allmedx.com]
Relevant External Links for HR Genetic Association Database (GAD) HR Human Genome Epidemiology (HuGE) Navigator HR Atlas of Genetics and Cytogenetics in Oncology and Haematology: HR No data available for Genatlas for HR Gene Genomic organization of the [genecards.org]
[…] developmental program controlled From the Department of Genetics, Tamkin Human Molecular Genetics Research Facility, Technion-Israel Institute of Technology, Bruce Rappaport Faculty of Medicine, Haifaa; the Departments of Dermatology,b Pediatric Surgery,c and Epidemiology [kundoc.com]
Recent insights in the epidemiology of autoimmune diseases: improved prevalence estimates and understanding of clustering of diseases. [frontiersin.org]
Pathophysiology
A powerful approach to advance our understanding of the pathophysiology of hair loss is to identify the genes underlying isolated and syndromic forms of hair loss. [jpma.org.pk]
Since the original description of a cDNA for the human hairless gene30 a year ago, the possibility that this gene product may be involved in the pathophysiology of AGA has been considered. [kundoc.com]
Prevention
Accurate discrimination between APL and alopecia universalis should prevent unnecessary treatment of patients affected with APL. [ncbi.nlm.nih.gov]
"The genes identified in this study could open up new opportunities for developing mechanism-driven approaches for future prevention or treatment of skin diseases including skin cancer and rare forms of hair loss." [news-medical.net]
Head Shoulders Fungal Infection On Head Hair Loss American Thickening Crew Sklep Anti- Shampoo for Dry Scalp or Neutrogena T-Gel to prevent your scalp from.Hair Loss Aloe Vera Gel Alopecia Help AdviceDog With Itchy Skin And Hair. [robinwoodplus.eu]
We report this case because of its rarity, accurate diagnosis, and discrimination from other disorders should prevent unnecessary treatment of patients with APL. REFERENCES: 1. Damste S, Prakken JR. [jemds.com]
However, AA in its widespread forms remains hardest to treat, and no treatment appears to prevent relapse. [frontiersin.org]