Abstract
Hallermann–Streiff syndrome (HSS) is a rare congenital abnormality affecting mostly the head and face area. Craniofacial deformities, which are present in 98–99% of cases, are the principal abnormalities detected. We focus here on a particular subset of these deformities: atrophy of the skin of the centre of the face and nose. Two patients diagnosed with HSS were treated in our department. Both patients underwent nasal lipofilling to treat the atrophy of the nasal skin, as described by Nguyen et al. In both cases, a satisfactory improvement in nasal skin colour and texture was observed. A functional gain was also reported by the parents and observed during follow-up consultations. Lipofilling thus appears to be an excellent option for treating craniofacial deformities in children.
Hallermann–Streiff syndrome (HSS) is a rare congenital anomaly principally affecting the head and face area. The first known case of this syndrome was reported by Aubry in 1893, but HSS was subsequently described in greater detail by Hallermann in 1948 and Streiff in 1950. In 1958, Francois carried out an extensive review of the 22 published cases and identified the seven major characteristics for the diagnosis of this syndrome ( Table 1 ).
| Finding | % |
|---|---|
| Dyscephaly and bird-like facies | 98–99 |
| Hypotrichosis | 80–82 |
| Atrophy of skin, especially on the nose | 68–70 |
| Congenital cataracts | 81–90 |
| Bilateral microphthalmia | 78–83 |
| Abnormal dentition | 80–85 |
| Proportionate nanism | 45–68 |
The aetiology of HSS seems to be an asymmetric second branchial arch defect, generally occurring between the fifth and sixth weeks of gestation. This syndrome is almost always sporadic, but a few familial cases have been reported. Current evidence is consistent with autosomal recessive inheritance in these cases.
Craniofacial deformities are the major abnormalities in HSS, occurring in 98–99% of cases, with a hypoplastic mandible, obtuse mandibular angle, and anterior displacement of the temporomandibular joint being particularly common. Retrognathism is frequently found. The nasal bones are unusually prominent, creating what has been described as a ‘bird-like face’. The skull is typically large and poorly ossified, with an abnormally high number of Wormian bones, frontal bossing, or prominent parietal bones. Fontanelle closure may be delayed in infants with HSS.
Ocular problems, such as microphthalmia, congenital cataracts, ptosis, and nystagmus, are observed in about 90% of cases. Dental abnormalities, such as an absence of teeth, natal teeth, supernumerary and malformed teeth, are found in 80–85% of patients. One third of affected individuals are small at birth, and proportionate short stature is observed in 45–68% of patients. Mental development is generally normal.
Patients have thin, light-coloured hair. The scalp may be normal at birth, but the hair soon becomes sparse and brittle, with balding of the sides and front of the head. The skin of the central face, particularly that covering the nose, is atrophic and thin. This atrophy of the skin results from a lack of cohesion between collagen fibres and fragmentation of the elastic fibres within the tissue.
We propose the use of lipofilling to improve the quality of the skin in the central face, and, particularly, the skin of the nose.
Methods
Two patients diagnosed with HSS were treated in our department. Both patients underwent nasal lipofilling to treat nasal skin atrophy. For the first patient, lipofilling of the nose was proposed during indicated surgery to position a tissue expander on the scalp. This intervention was successful, leading us to propose nose lipofilling earlier and as the only surgical procedure in a second patient.
Fat was harvested from the donor site with a 14-gauge 2 × 130-mm multi-perforated cannula (Stérim; Thiebaud Biomedical Devices, Paris, France). The infiltration step recommended by Nguyen et al. was omitted, given the small amount of fat to be aspirated.
The harvested fat was centrifuged at 3000 rpm for 3 min (Coleman’s protocol). In both cases, the fat was then introduced into the nose, in the subcutaneous plane, from the top down, with 21-gauge 0.8 × 40 mm micro-cannulas (Stérim). At the end of the procedures, a Steri-Strip (3 M) dressing was applied for 1 week.
Case reports
Case 1
The first patient to undergo surgery was VB ( Fig. 1 ), a boy born in August 2005. He was diagnosed with HSS and presented the following signs of the syndrome at birth: cloverleaf cranium, wide open fontanelles and sutures, retrognathism, and a short nose with very atrophic and pale skin. His eyes were sky blue with sclera, subsequently confirmed to correspond to bilateral cataracts. The patient had sparse, thin hair and no eyebrows. Karyotyping results were normal (46XY).
During follow-up, he presented growth retardation, with difficulties breastfeeding, and a major gastroesophageal reflux requiring gastrostomy and Nissen fundoplication surgery to resolve the symptoms. Since infancy, this patient has been treated for essential hypertension and obstructive sleep apnoea, requiring non-invasive mechanical ventilation during the night. He has also been treated for idiopathic thrombocytopenia.
The patient presented midface retrusion and micrognathism. Ogival palate and glossoptosis were observed on buccal examination. The patient also presented a central area of alopecia of the scalp, which was treated by double temporal scalp expansion.
The patient underwent a procedure to implant two skin expanders to treat the central zone of alopecia in May 2014 (at the age of 9 years). Nasal lipofilling was performed at the same time. Fat was collected from the inner face of the right thigh. After centrifugation, 2.5 cm 3 of fat was inserted under the skin of the nose ( Fig. 1 ). A second nasal lipofilling intervention, with 1.6 cm 3 of fat, was carried out when the expanders were removed.
Case 2
The second patient, AC ( Fig. 2 ), was a boy born in September 2013. He was also diagnosed with HSS. He presented major signs of this syndrome, such as microphthalmia, congenital bilateral cataracts, salt-and-pepper retinopathy, micrognathism, and retrognathism. He also presented micropenis. His growth curve is two standard deviations below the normative curve for his age, although he shows no signs of motor or mental deficiency. The fontanelles were open at birth (appropriately open for age). He clearly had a smaller nose than would be expected for a child of his age, with under-developed alar cartilage, visible in bright light, and thin skin. His karyotype was found to be normal (46XY).
