Australian Doctor 1st September 2023 AD 1st Sept Issue | Page 24

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Box 1 . Causes of neonatal erythroderma Table 3 . Evaluation of bleeding disorders

• Non-syndromal ichthyosis :

— Autosomal recessive congenital ichthyosis ( ARCI , including lamellar ichthyosis , congenital ichthyosiform erythroderma , harlequin ichthyosis , ichthyosis with confetti ). — Epidermolytic ichthyosis ( including ichthyosis bullosa of Siemens ). — Ichthyosis prematurity syndrome . — Peeling skin syndrome type B . — Self-healing collodion .

• Syndromal ichthyosis : — Netherton syndrome . — Sjögren‐Larsson syndrome . — Chanarin‐Dorfman syndrome . — Conradi‐Hünermann‐Happle syndrome . — Keratitis‐ichthyosis‐deafness syndrome ( KID ). — Trichothiodystrophy . — Ichthyosis follicularis atrichia and photophobia syndrome .

• Ectodermal dysplasia : — Ankyloblepharon-ectodermal defects-cleft lip / palate syndrome .

Disorder Bleeding Platelet disorders ( quantitative )

Platelet disorders ( functional )

Haemophilia type A or B ( factor VIII or IX deficiency ) or other factor deficiencies

Factor inhibitors

Hereditary haemorrhagic telangiectasia Vasculitis or cryoglobulinaemia Leukaemia

Findings or clues to diagnosis

Bleeding , bruising , petechia , or purpura Consider idiopathic thrombocytopenic purpura , thrombotic thrombocytopenic purpura , malignancy , viral disease

Consider glycoprotein disorders ( Bernard-Soulier syndrome , Glanzmann ’ s thrombasthenia ), storage pool disease , von Willebrand disease If platelets are abnormally shaped , consider May-Hegglin anomaly , Wiskott-Aldrich syndrome

Classically presents with joint or soft-tissue bleeding , family history of bleeding in men ( skipped generations )

Similar presentation to haemophilia , but onset is typically sudden with no patient or family history of bleeding

Telangiectasias over lips , tongue , nasal cavity , and skin ; epistaxis Neuropathy ; pulmonary-renal involvement ; purpura Abnormal complete blood count or peripheral blood smear

• Metabolic disorders : — Multiple carboxylase deficiency ( holocarboxylase synthetase deficiency and biotinidase deficiency ). — Amino acid disorders ( methylmalonic acidaemia , propionic acidaemia and maple syrup urine disease ). — Urea cycle disorders ( citrullinaemia ). — Menkes disease .

• Infections : — Staphylococcal scalded skin syndrome . — Congenital cutaneous candidiasis .

• Immunodeficiencies : — Omenn syndrome . — Severe combined immunodeficiency . — Wiskott-Aldrich syndrome . — Immunodysregulation , polyendocrinopathy and enteropathy X-linked syndrome . — Maternal graft-versus-host disease . — Severe dermatitis , multiple allergies , and metabolic wasting syndrome ( SAM ), SAM-like phenotype . — DiGeorge syndrome . — Selective immunoglobulin A deficiency . — Gaucher syndrome type 2 . — Autosomal dominant / autosomal recessive hyper immunoglobulin E syndrome . — X-linked agammaglobulinaemia . — Combined variable immunodeficiency .

• Drugs : — Stevens-Johnson syndrome . — Toxic epidermal necrolysis . — Drug-induced hypersensitivity syndrome ( vancomycin , phenytoin and ceftriaxone ). — Toxic shock syndrome .

• Other : — Atopic dermatitis . — Psoriasis . — Seborrhoeic dermatitis . — Pityriasis rubra pilaris . — Diffuse cutaneous mastocytosis . — Cerebro-oculo-facio-skeletal syndrome . — Kindler epidermolysis bullosa . — Cow ’ s milk consumption . — Scabies . — Haemophagocytic lymphohistiocytosis . — Congenital lues / syphilis . — Acrodermatitis enteropathica .

Source : Cuperus E et al 2022 63

Disseminated intravascular coagulation

Vitamin K deficiency

Bruising Abuse

Cushing ’ s disease Marfan ’ s syndrome Vitamin C deficiency ( scurvy )

Ehlers-Danlos syndrome or connective tissue diseases

Adapted from Ballas M et al 2008 57

Table 4 . Causes of pathological jaundice

Bleeding from multiple sites ; prolonged prothrombin time and partial thromboplastin time

More common causes include malabsorption ( bacterial overgrowth , coeliac disease , chronic pancreatitis , inflammatory bowel disease , short-gut syndrome ), poor diet ( alcoholism , total parenteral nutrition ) or drugs that bind vitamin K ( cholestyramine )

Atypical pattern of bruising or bleeding ; bruises that pattern after objects ; bruises in children who are not yet mobile ; history that is inconsistent with patient ’ s injuries

Facial plethora ; hirsutism ; hyperglycaemia ; hypertension ; poor wound healing ; striae Enlarged aortic root ; eye involvement ; mitral valve prolapse Dietary history Atrophic scarring or joint dislocations ; hypermobile joints ; skin hyperextensibility

Aspect Common causes Less common causes Haemolysis

Decreased bilirubin conjugation

Decreased bilirubin excretion

Hepatocyte damage

Source : Queensland Health 2022 59

• Blood extravasation — Bruising / birth trauma

• Haemorrhage ( eg , cerebral , pulmonary , intra-abdominal )

• Isoimmunisation — ABO ( low risk ) or Rh D ( high risk ) alloantibodies — Other blood group alloantibodies : Kell and Rh C and E are the most common

• Gilbert ’ s syndrome ( glucuronosyl transferase deficiency disorder )

• Congenital hypothyroidism

• Abnormal biliary ducts ( eg , intrahepatic biliary atresia or extrahepatic biliary stenosis or atresia )

• Congenital infections : — CMV , HSV — Toxoplasmosis , rubella , syphilis , varicella – zoster , parvovirus B19 causing hepatitis

• Inborn errors of metabolism ( eg , urea cycle defects , galactosaemia , fatty acid oxidation defects )

• Red blood cell enzyme defects : — Glucose-6-phosphate-dehydrogenase deficiency — Pyruvate kinase deficiency

• Hereditary red blood cell membrane abnormalities : — Spherocytosis — Elliptocytosis

• Haemoglobinopathies — Alpha thalassaemia

• Infection

• Other glucuronyl transferase deficiency disorders — Crigler-Najjar syndrome — Transient familial neonatal hyperbilirubinaemia /

Lucey-Driscoll syndrome ( may be severe )

• Congenital hypopituitarism

• Conditions causing abnormal biliary ducts , ( eg , Alagille syndrome , choledochal cyst )

• Increased enterohepatic bilirubin recirculation

• Bowel obstruction , pyloric stenosis

• Meconium ileus or plug