In the present study, we have investigated a large family from Afghanistan in which four individuals are affected with hereditary hypotrichosis and the appearance of recurrent skin vesicle formation. [ncbi.nlm.nih.gov]

Ectodermal dysplasia/skin fragility syndrome may present with delayed onset and cheilitis can be absent. [e-ijd.org]

A well-demarcated, thick, yellow hyperkeratosis is present over the palms and soles. An erythematous band is frequently present at the periphery of the keratosis. The surface is often uneven and verrucous. [emedicine.medscape.com]

ORPHA:217407 Synonym(s): - Prevalence: Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: - OMIM: 613102 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]

• Pain

  Vascular disease H00772 Paroxysmal extreme pain disorder Paroxysmal extreme pain disorder (PEPD) is a autosomal dominant pain disorder resulting from a set of gain-of-function mutations in SCN9A, the gene encoding Nav1.7, that impair inactivation of Nav1.7 [kegg.jp]

  Potassium permanganate dilute solution soaks - also popular, and used to 'dry out' the vesicles, [11] and kill off superficial Staphylococcus aureus, [12] but it can also be very painful. [ipfs.io]

  Shingles starts with pain, then erythema and vesicles in the distribution of a sensory nerve root. The preceding pain can be severe and occur up to two days before the development of the characteristic rash. [nature.com]

  Epidermolytic Palmoplantar Keratoderma Keratoderma Hereditaria Mutilans Loricrin Keratoderma Greither Disease Olmsted Syndrome Papillon-Lefevre Syndrome Huriez Syndrome Mal De Meleda Punctate Palmoplantar Keratoderma Striate Keratoderma Richner-Hanhart Syndrome Painful [amazon.it]

  […] cholangitis Cholangitis Immune dysregulation Recurrent aphthous stomatitis Ulcerative colitis Abnormality of the gastrointestinal tract Colon cancer Multifactorial inheritance Intestinal obstruction Colitis Lymphadenopathy Autoimmunity Weight loss Abdominal pain [mendelian.co]

• Failure to Thrive

  PANCREATIC AGENESIS 1; PAGEN1 Is also known as pagen, pancreatic hypoplasia, congenital;congenital pancreatic agenesis; partial agenesis of the pancreas Related symptoms: Autosomal recessive inheritance Growth delay Failure to thrive Intrauterine growth [mendelian.co]

  Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK. Dermatol. In Press. Muttardi K, Nitoiu D, Kelsell DP, O’Toole EA, Batta K. [rarediseases.org]

  […] to thrive, recurrent skin infections, follicular hyperkeratosis and one case had acrodermatitis enteropathica which responded to zinc supplementation. [4] Clinical evaluation of reported cases revealed variability in the extent of the alopecia and the [e-ijd.org]

• Hearing Impairment

  CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA Is also known as cie; erythrodermic ichthyosis; non-bullous congenital ichthyosiform erythroderma Related symptoms: Short stature Hearing impairment Failure to thrive Alopecia Pruritus SOURCES: UMLS ORPHANET [mendelian.co]

  Additionally our group is also working on large scale genomic analysis, expression studies related to Identification and Analysis of Genes Involved in Human Hearing Impairment. Email: [email protected], [email protected] Publication. [uob.edu.pk]

  Clinically, all neonates are hearing impaired from birth and develop diffuse PPK in childhood. Leukonychia and hyperkeratoses over the joints of the hand also appear. [emedicine.medscape.com]

  View Article Download full-text PDF Source http://dx.doi.org/10.1186/1746-1596-8-78 DOI Listing http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3655832 PMC May 2013 Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3 [pubfacts.com]

  impairment and cleft palate (MHICP) Mosaic variegated aneuploidy (MVA) syndrome Mulibrey nanism Nance-Horan syndrome Global cerebral hypomyelination Nonsyndromic congenital nail disorder (NDNC) Macrocephaly macrosomia facial dysmorphism syndrome SHORT [csirnotes.com]

• Pachyonychia

  Congenita Ambras Syndrome Localized Hypertrichosis Zimmermann-Laband Syndrome Monilethrix Pili Annulati Pili Torti Woolly Hair Uncombable Hair Syndrome Silvery Hair Syndrome Menkes Syndrome Atrichia with Papular Lesions Loose Anagen Syndrome Nail Disorders Pachyonychia [amazon.it]

  […] hidrotic Ectodermal dysplasia/skin fragility syndrome Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) [PATH:hsa04514] Odontoonychodermal dysplasia Ectodermal dysplasia-syndactyly syndrome (EDSS) Acne inversa Anonychia congenita Pachyonychia [csirnotes.com]

  Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet 1995 ; 9 : 273 – 8. Cross Ref link Pubmed link 141 Blaydon DC, Lind LK, Plagnol V, et al. [rooksdermatology.com]

• Sparse Hair

  Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. [nectarmutation.org]

  Cutaneous examination showed lusterless, short and sparse scalp hair while eyebrows were completely absent and eyelashes were sparse. [e-ijd.org]

  […] was present, and after ritual shaving at 1 week of age, scalp hair grew back; however, the hair was fragile and began falling out at 2 to 3 months of age, eventually leaving only sparse hair on the scalp. [en.academic.ru]

  Affected individuals display short, sparse hairs on the ... [kegg.jp]

• Sparse or Absent Eyelashes

  […] or absent eyelashes Causes List for Sparse or absent eyelashes List of possible causes of Sparse or absent eyelashes or similar symptoms may include: 2 Barber Say syndrome (Sparse or absent eyelashes) Bazex-Dupre-Christol syndrome (Sparse or absent eyelashes [familydiagnosis.com]

  A very rare inherited hair loss disorder with characteristics of sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axilla and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst [ncbi.nlm.nih.gov]

Some treatments for skin disorders may impact on dental management. The more important areas where treatments may affect dental management are discussed in this paper. [nature.com]

Leading experts have contributed to this book which offers a practical approach to the evaluation and management of various forms of alopecia, including their pathogenesis, the diagnostic procedures involved, medical treatments, and nutritional issues [books.google.de]

Early treatment with acitretin in childhood may allow patients to have normal adult dentition. [emedicine.medscape.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

There are many treatments available for dyshidrosis. [ipfs.io]

Only other case that was normal at birth was reported by Hamada et al ., [10] at the age of 42 years with no serious disability, so prognosis is expected to be good in such cases like this case. [e-ijd.org]

Heilmann S, Kiefer AK, Fricker N, et al: Androgenetic alopecia: identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology. J Invest Dermatol 2013;133:1489-1496. [karger.com]

Xiao FL, Yang S, Liu JB, et al: The epidemiology of childhood alopecia areata in China: a study of 226 patients. Pediatr Dermatol 2006;23:13-18. [karger.com]

"Dyshidrosis: epidemiology, clinical characteristics, and therapy.". Dermatitis : contact, atopic, occupational, drug. 17 (4): 165–81. PMID 17150166. 1 2 3 4 5 6 Colomb-Lippa, D; Klingler, AM (July 2011). "Dyshidrosis.". [ipfs.io]

The entry for each disease includes its epidemiology, laboratory findings, genetics, pathogenesis, cutaneous and extracutaneous findings, differential diagnosis, disease course, complications, and follow-up and therapy, where appropriate. [booktopia.com.au]

The epidemiology of inherited epidermolysis bullosa: findings in the US, Canadian and European study populations. In: Fine J‐D, Bauer EA, McGuire J, Moshell A, eds. [rooksdermatology.com]

Epidermolysis bullosa in children: pathophysiology, anaesthesia and pain management. Paediatr Anaesth 2002 ; 12 : 388 – 97. Cross Ref link Pubmed link 175 Goldschneider KR, Lucky AW. Pain management in epidermolysis bullosa. [rooksdermatology.com]

In cases of C1 esterase deficiency, supplementation before dental treatment may be provided to prevent the development of angio-oedema. [nature.com]

Elective extraction of involved teeth may prevent excess bone resorption. Appropriate antibiotic therapy may be required for periodontitis and recurrent cutaneous and systemic infections. [emedicine.medscape.com]