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].

• Inguinal Hernia

  At 3 months, inguinal herniae were repaired. At 2V2 years, the right leg was noted to be shorter than the left. This discrepancy is now 1.5 cm. [documents.tips]

  At 15 years old, he had a right inguinal hernia repair; his abdominal ultrasound and echocardiograph were normal. [ncbi.nlm.nih.gov]

• 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]

• Prognathism

  […] polydactyly with colobomatous abnormalities - See Pfeiffer 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 [herenciageneticayenfermedad.blogspot.com]

• 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]

• Mood Swings

  Later problems were chronic conjunctivitis, short stature, hirsutism, obesity, mood swings, and behavior problems (Fig. 2). Chromosomes were apparently normal. An older brother is unaffected. There are no known Puerto Rican ancestors. [documents.tips]

• 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]

• Facial Scar

  There is limited experience with plastic surgery for the facial scar-like lesions.PrognosisAffected individuals have a normal intelligence and life span.Visit the Orphanet disease page for more resources. [malacards.org]

• Beaked Nose

  Fig 1 (Top) Facial features ofSetleis syndrome in reported siblings: 1) Absent lateral portion of eyebrows, 2) bitemporal scarred, erythematotis skin resembling forceps scars, 3) redundant facial and periorbital skin, 4) "parrot-beak" nose, and 5) thickened [healio.com]

• Cryptorchidism

  Other problems have been conjunctivitis, bilateral megaureters, phimosis, cryptorchidism, progressive equino-varus position of the feet and astigmatism. Chro- mosomes are apparently normal. [documents.tips]

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].

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]

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]

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

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]

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

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 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. [malacards.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]

[…] regulates epithelial-mesenchymal transition by depriving the epithelial cell phenotype of E-cadherin (zeige CDH1 Antikörper ) and endowing the mesenchymal cell phenotype with Vimentin (zeige VIM Antikörper ), which may be involved in the progression and prognosis [antikoerper-online.de]

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]

Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known. [howlingpixel.com]

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

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]

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]

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]

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]

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

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.