The main clinical sign of Setleis syndrome (also known as focal facial dermal dysplasia type 3) is the appearance of bitemporal atrophic and scar-like lesions on the skin that resemble forceps marks [1] [2]. The term "forceps marks" is used due to the striking similarity with the lesions encountered after the use of forceps for assisted vaginal delivery. These lesions are characteristic of all focal facial dermal dysplasias (FFDDs), which is why additional features must be used to discern between the different types of dysplasias. Facial changes are typical for FFDD type 3, and most commonly identified abnormalities are: absence of eyelashes on both lids, leonine-like facies, multiple rows of eyelashes on the upper lids (termed distichiasis), sparse and slanted eyebrows, a flattened nasal bridge, a bulbous nose, clefting of the chin, absent Meibomian glands, wrinkled facial skin, and a low frontal hairline [1] [2] [3]. In addition, some patients may present with periorbital puffiness and a large and prominent upper lip [4]. Apart from facial and skin symptoms, some reports suggest that infants may suffer from developmental delay [4]. Setleis syndrome seems to affect all ethnic groups [1], but consanguineous marriages seem to be a significant risk factor, presumably due to autosomal dominant and recessive modes of inheritance [2] [5].

• Surgical Procedure

  We have treated an 8-year-old boy with the syndrome and describe the plastic surgical procedures done and the histological findings. [ncbi.nlm.nih.gov]

• Anemia

  anemia, complementation group E,600901 FANCF158.811Fanconi anemia, complementation group F,603467 FANCG149.50.990.99Fanconi anemia, complementation group G,614082 FANCI1820.990.97Fanconi anemia, complementation group I,609053 FANCL860.980.93Fanconi anemia [qgenomics.com]

  not a rare disease Sideroblastic anemia acquired Sideroblastic anemia and mitochondrial myopathy Sideroblastic anemia pyridoxine-refractory autosomal recessive Sideroblastic anemia pyridoxine-responsive autosomal recessive Sideroblastic anemia with [herenciageneticayenfermedad.blogspot.com]

  Patil, Dharmapuri Vidyasagar 01.03.2014 | Original Article | Ausgabe 3/2014 Epidemiological Features of Aplastic Anemia in Indian Children Vineeta Gupta, Raghvendra Pratap, Akash Kumar, Isha Saini, Jyoti Shukla 01.03.2014 | Original Article | Ausgabe [springermedizin.de]

  1.70818 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 1.70772 METTL14 methyltransferase like 14 1.70628 STAM signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 1.70431 PUM2 pumilio RNA-binding family member 2 1.69987 FANCF Fanconi anemia [amp.pharm.mssm.edu]

  […] the Greek words ὄνυχο- ónycho-, "nail" and ῥῆξις rhexis, "bursting"), also known as brittle nails, is a brittleness with breakage of finger or toenails that may result from excessive strong soap and water exposure, nail polish remover, hypothyroidism, anemia [howlingpixel.com]

• Dysmorphic Face

  […] with a prominent nose and deep-set eyes - See Floating-Harbor syndrome Short stature with optic atrophy and Pelger-Huët anomaly syndrome Short stature wormian bones dextrocardia Short stature, abnormal face, joint laxity, hernias, delayed bone age, and [herenciageneticayenfermedad.blogspot.com]

• Severe Short Stature

  Mayer syndrome Short stature microcephaly heart defect - See D ercole syndrome Short stature microcephaly seizures deafness Short stature monodactylous ectrodactyly cleft palate Short stature prognathism short femoral necks Short stature Robin sequence [herenciageneticayenfermedad.blogspot.com]

• Low Set Ears

  […] frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis. [malacards.org]

  They had large bitemporal discolored dermal depressions, sparse lateral eyebrows, abnormal eyelashes, and dysplastic and low-set ears. [pubman.mpdl.mpg.de]

• Skin Disease

  Clinical Correlations: Focal ectodermal dysplasia implies that this is a localized skin disease which it is. Only the facial skin is involved. [disorders.eyes.arizona.edu]

  In addition, affected infants may have puffy, wrinkled skin around the eyes (periorbital) and/or abnormalities of the eyelashes, eyebrows, and eyelids. [hekim.org]

  (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 Website: http://rarediseases.info.nih.gov/GARD/ NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases Information [ghc.org]

  For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information". The information provided in this report is not intended for diagnostic purposes. [informationtherapy.in]

• Alopecia

  Suggestions Triangular alopecia Encyclopedia Article Triangular alopecia, Phakomatosis pigmentovascularis, Setleis syndrome, List of cutaneous conditions Read More Copyright © World Library Foundation. [worldlibrary.org]

  Triangular alopecia Triangular alopecia (also known as "Temporal alopecia" and "Temporal triangular alopecia") (TTA) is hair loss that may be congenital but usually appears in childhood as a focal patch of loss that may be complete or leaving fine vellus [howlingpixel.com]

  2 Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and [nfed.org]

  See also[edit] Triangular alopecia Red lunulae List of skin conditions References[edit] ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Focal facial dermal dysplasia type III". www.orpha.net. [en.wikipedia.org]

• Sweating

  Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. [ghr.nlm.nih.gov]

  The sebaceous glands produce a thick, oily substance (sebum) that helps the skin retain body heat and prevent the evaporation of sweat. [rarediseases.org]

  In some cases, a biopsy of the affected skin in the temporal region may be performed, which will show hypoplasia of the dermis and its inner structures (eg. hair follicles and sweat glands) or absence of subcutaneous adipose tissue. [symptoma.com]

• Sparse Eyebrows

  The mother of the patients also carried similar facial characteristics such as a prominent jaw and chin, laterally sparsed eyebrows, redundant facial skin and a long face. [ncbi.nlm.nih.gov]

• Sparse to No Eyebrows

  Facial changes are typical for FFDD type 3, and most commonly identified abnormalities are: absence of eyelashes on both lids, leonine-like facies, multiple rows of eyelashes on the upper lids (termed distichiasis), sparse and slanted eyebrows, a flattened [symptoma.com]

• Periorbital Fullness

  Setleis syndrome is characterized by an aged, leonine facial appearance, puckered skin around the eyes with periorbital fullness, and absent or multiple rows of eyelashes. Flat nasal bridge, bulbous nasal tip, and big lips. [accessanesthesiology.mhmedical.com]

  There was periorbital fullness, the nasal bridgewas shallow, and his nose was thin with a bulbous tip(Fig. 2). He had multiple rows of eyelashes on the superiorlids and no lashes on the lower lids. [docslide.com.br]

• Suggestibility

  Taken together, these data suggest that the C-terminal domain of TWIST2, which is missing in the Q119X mutant form of TWIST2, is responsible for proper transactivation of the periostin gene. [ncbi.nlm.nih.gov]

  In this report, we have described a family withthe facial features of Setleis" syndrome (Table I I. butwith the dominant inheritance pattern of FFDD. suggest-ing genetic homogeneity of these twt) syndromes onseveral grounds. [dokumen.tips]

  Histologically, the bitemporal lesion is an ectodermal dysplasia with near absence of subcutaneous fat, suggesting insufficient migration of neural crest cells into the frontonasal process and the first branchial arch. [malacards.org]

• Bulbous Nose

  nose, clefting of the chin, absent Meibomian glands, wrinkled facial skin, and a low frontal hairline. [symptoma.com]

  Barber-Say syndrome (BBRSAY) [MIM:209885]: A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features. [genecards.org]

  Note the typical FFDD3 features including bitemporal scar-like lesions, distichiasis, paucity of lower eyelashes, puffy eyes, bulbous nose, horizontal chin crease and redundant skin in the proband (a), and the absence of these FFDD3 features in his father [nature.com]

• Nystagmus

  Three of the four affected individuals had congenital horizontal nystagmus, which had hitherto only been reported in a single patient with FFDD. [pubman.mpdl.mpg.de]

  Other eye abnormalities less often reported include short and/or slanting palpebral fissures, as well as impaired vision, nystagmus, exotropia, hypertelorism and absent meibomian glands. [malacards.org]

Although Setleis syndrome is a very rare disease, the two most important steps in the diagnostic workup are a thorough physical examination and a detailed patient history, as diagnostic criteria focus solely on findings obtained during these procedures. Clinical features may be evident as early as birth, which is why temporal skin lesions should be easily observed in neonates and infants, together with additional facial deformities, although the diagnosis can be made as late as adolescence [2]. When an initial diagnosis is made, a thorough family history is necessary in order to confirm the presence of similar signs and symptoms in close family members or siblings. In some cases, a biopsy of the affected skin in the temporal region may be performed, which will show hypoplasia of the dermis and its inner structures (eg. hair follicles and sweat glands) or absence of subcutaneous adipose tissue [1] [2]. If strong suspicion exists, genetic testing should be advised. Mutations of TWIST2 on chromosome 2, a transcription factor that exhibits an important role in the embryologic development of bones and the dermis, seems to be responsible for the development of Setleis syndrome, and its evaluation is recommended in workup [1] [2].

Decisions about use of a new treatment, or about a change in your current treatment plan, should be in consultation with your doctor or other healthcare professional. [healthetreatment.com]

Adherence to treatment is a problem in chronic diseases and may affect treatment outcomes. OBJECTIVE: We aim to investigate treatment adherence and satisfaction of patients with acne and identify independent factors that affect them. [medworm.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

Diagnosis and Prognosis: This condition is most likely to be recognized by a medical geneticist or a pediatrician. No treatment has been reported. Additional Information [disorders.eyes.arizona.edu]

Prognosis - Focal facial dermal dysplasia Not supplied. Treatment - Focal facial dermal dysplasia Not supplied. Resources - Focal facial dermal dysplasia Not supplied. [checkorphan.org]

Treatment and prognosis The current adopted treatment option includes eye drops for corneal clouding, reconstruction surgery and psycho-social support for children. [radiopaedia.org]

Prognosis In patients with normal intelligence, normal life span is expected. Patients with developmental delay may have other organ system involvement which may affect health and longevity. Last updated: 6/13/2014 [rarediseases.info.nih.gov]

In contrast to previous assumptions about an autosomal recessive etiology of this disorder, this family provides further evidence that FFDD is inherited in an autosomal dominant mode. [pubman.mpdl.mpg.de]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

Epidemiology FFDD3 is reported in over 20 patients from more than 15 families, but only 4 consanguineous families have had TWIST2 mutations. [rarediseases.info.nih.gov]

Relevant External Links for TWIST2 Genetic Association Database (GAD) TWIST2 Human Genome Epidemiology (HuGE) Navigator TWIST2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: TWIST2 No data available for Genatlas for TWIST2 Gene Setleis [genecards.org]

Patil, Dharmapuri Vidyasagar 01.03.2014 | Original Article | Ausgabe 3/2014 Epidemiological Features of Aplastic Anemia in Indian Children Vineeta Gupta, Raghvendra Pratap, Akash Kumar, Isha Saini, Jyoti Shukla 01.03.2014 | Original Article | Ausgabe [springermedizin.de]

In these cases, infection of the unhealed lesion should be prevented by keeping the area clean. If infection does occur, antibiotics may be used in treatment. In cases of deep or multiple lesions, surgical repair may be required. [ozarkderm.com]

Prevention - Focal facial dermal dysplasia Not supplied. Diagnosis - Focal facial dermal dysplasia Not supplied. Prognosis - Focal facial dermal dysplasia Not supplied. Treatment - Focal facial dermal dysplasia Not supplied. [checkorphan.org]

Since engagement in other health-risk behaviors were salient predictors of use initiation, prevention efforts to reduce harm from marijuana use may benefit from targeting risk factors for health-risk behaviors in general. [medworm.com]

Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]

Mutations in the EDA, EDAR, or EDARADD gene prevent normal interactions between the ectoderm and the mesoderm, which impairs the normal development of skin, hair, nails, teeth, and sweat glands. [ghr.nlm.nih.gov]

1. Tukel T, Šošić D, Al-Gazali LI, et al. Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome. Am J Hum Genet. 2010;87(2):289-296.
2. Rosti RO, Uyguner ZO, Nazarenko I, et al. Setleis syndrome: Clinical, molecular and structural studies of the first TWIST2 missense mutation. Clin Genet. 2015;88(5):489-493.
3. Franco HL, Casasnovas JJ, Leon RG, et al. Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin. Int J Biochem Cell Biol. 2011;43(10):1523-1531.
4. McGaughran J, Aftimos S. Setleis syndrome: three new cases and a review of the literature. Am J Med Genet. 2002;111(4):376-380.
5. Slavotinek AM, Mehrotra P, Nazarenko I, et al. Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. Hum Mol Genet. 2013;22(4):696-703.