Australian Doctor 1st September 2023 AD 1st Sept Issue | Seite 23

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Figure 8 . Ichthyosis in a patient with biallelic mutations in ABCA12 . Figure 9 . Neonatal pemphigus .

Table 2 . Additional investigations / referrals in specific cases Clinical scenario Risk Investigations / referrals More than five IHs Infantile hepatic haemangioma Liver ultrasound

Infantile hepatic haemangioma or large IH

Peripheral hypothyroidism TSH , T3 and T4

Periocular IH Astigmatism , visual axis obstruction , nasolacrimal duct obstruction , ptosis , amblyopia , strabismus

Refer to ophthalmologist

Large facial IH ( greater than 5cm )

PHACE syndrome ( Posterior fossa anomalies , Haemangioma , Arterial anomalies , Cardiac anomalies and Eye anomalies )

Figure 10 . Facial capillary malformation .

• Midline fusion defects

• Cerebrovascular and brain structure

Complete physical examination

MRI ( with and without gadolinium ) and magnetic resonance angiography ( MRA ) of head and neck ( including the aortic arch and brachiocephalic origin ) smear and screening for von Willebrand disease . 55

COLOUR CHANGE

Neonatal jaundice

NEONATAL jaundice is a common condition affecting 60 % of term neonates in the first week of life . 58 Physiological jaundice , a result of high total serum bilirubin , typically occurs more than 24 hours after birth . 59 In contrast , pathological jaundice has several causes ( see table 4 ) and typically occurs within the first 24 hours of life , with risk of acute and chronic bilirubin encephalopathy . 59 Features suggestive of pathological jaundice include onset earlier than 24 hours after birth , an unwell neonate , elevated conjugated bilirubin , prolonged jaundice or pale stool . 60 Management principles of neonatal jaundice include prevention , identification and assessment of at-risk babies and treatment with phototherapy . 59 , 61 Cease medications ( for example , sulfamethoxazole ) that interfere with bilirubin metabolism , address inadequate feeding and institute phototherapy . Phototherapy converts bilirubin to water-soluble isomers that cannot cross the blood – brain barrier and are more readily excreted .

Neonatal erythroderma

Erythroderma is a potentially

life-threatening clinical presentation characterised by diffuse erythema of the skin . 62-64 There are a

wide range of causes and treatment is determined according to the dermatosis driving the erythema ( see box 1 ).

Cyanosis

Cyanosis is characterised by the bluish discolouration of tissues when deoxygenated haemoglobin exceeds 3g / dL . 65 Primary acrocyanosis is a benign , transient finding in healthy newborns , characterised by peripheral cyanosis around the mouth and extremities because of vasomotor changes in extrauterine life . 66 Peripheral cyanosis may be pathological such as with shock , sepsis , venous obstruction and polycythaemia . 66 Persistent central cyanosis is pathological in almost all cases ; promptly evaluate this and provide supportive measures .

Café-au-lait macules

Café-au-lait macules present as well-circumscribed , light brown oval-shaped macules or patches on the body ( see figure 11 ). They represent increased melanin production with a normal number of melanocytes . In isolation , they are generally innocuous but the presence of multiple lesions — particularly six or more — should prompt referral as they may be the presenting sign of neurofibromatosis type 1 . 51 Treatment is not required in most cases , although longitudinal monitoring for other stigmata of neurofibromatosis type 1 is recommended .

Possible or definite PHACE syndrome

Congenital melanocytic naevi

Congenital melanocytic naevi ( CMN ) are present at birth in 1-6 % of

• Cardiac abnormalities and aortic coarctation

• Ocular anomalies

neonates and are composed of melanocytes . 67 CMN present as round or oval-shaped hyperpigmented patches that may evolve to become

Echocardiography ( cardiac MRI / MRA if abnormalities )

Refer to ophthalmologist

• Involving beard area Airway obstruction Referral to ENT

• Multisegmental IH or auditoryrelated imaging abnormalities such as internal auditory channel haemangioma

• Midline cranial or cerebral malformation

• Involving maxillary and / or mandibular area ( s ) or intraoral

Lumbosacral IH ( greater than 2-5cm )

Sensorineural or conductive hearing loss

Hypothalamic-pituitary axis ( HPA ) dysfunction ( growth hormone deficiency , central hypothyroidism , adrenal insufficiency , hypogonadotropic hypogonadism )

Dental abnormalities Molar root absence or abnormalities ; enamel hypoplasia ; multiple cavities

LUMBAR syndrome ( Lower body haemangioma and other cutaneous defects , Urogenital anomalies , Myelopathy , Bone deformities , Anorectal malformations , arterial anomalies and Renal anomalies )

• Spinal cord anomalies

• Renal , urinary or genital abnormalities

Referral to ENT ( comprehensive audiology evaluation ; at least one follow-up hearing test even if initial screening is normal )

Periodic monitoring of growth parameters , symptoms of HPA dysfunction and thyroid function test

Referral to dentist ( by one year of age )

Spinal MRI ( ultrasound can be considered if younger than six months of age )

Abdominal and pelvic ultrasound

• If lower leg extensively affected • Vascular anomalies MRA and magnetic resonance venography Source : Rodríguez Bandera AI et al 2021 50 thicker and nodular with hypertrichosis . 51 , 67 In rare cases , CMN may be a sign of neurocutaneous melanosis ; in this condition heterotopic