This document describes a case of a 9-year-old boy presenting with thickening and fissuring of the palms and soles for two years. Physical examination showed diffuse keratoderma of the palms and soles, with involvement of the dorsal surfaces and deep fissures. The condition was characterized as palmo-plantar keratoderma involving the dorsal surfaces of the hands and feet, with excessive sweating and skin maceration. The document discusses the differential diagnosis and treatment options.

2. DR SHEHRYAR RIAZ
HMC DERMATOLOGY DEPARTMENT

3.  A 9 year old boy, presented to skin
department, with complaints of thickening and
fissuring of the palms and soles since two year of
age.
 Initially, the thickening was noted as small raised
lesions over fingertips and plantar surface of the
toes, which gradually progressed to diffuse
thickening of the palms and soles with extension
to the dorsum of hands and feet.
 Patient also had excessive sweating and fissuring
of the palms and soles.
.

4.  Physical examination revealed diffuse keratoderma
of the palms with erythematous border extending
to the dorsa of the hands , associated with deep
fissures and hyperhidrosis with maceration of the
skin
 The erythematous border was seen extending to
the dorsum of the feet and to the skin over the
Achilles tendon .
 Hair, nails and teeth were normal.

7.  is an autosomal dominant disorder, clinically
characterized by
 Diffuse palmoplantar keratoderma
 Hyperhidrosis

8.  Consanguious Marriage
 Family History Positive
 Age of Onset
 History of Collodion Baby, Erythoderma or
Blisters at Birth
 Palmoplanter Keratoderma Present at Birth
 Ectodermal Features Present

9.  In classic cases, lesions of Greither’s disease
start after the second year of life and tend to
involute after the sixth decade.
 Greither's disease has several clinical
similarities with Mal de Meleda syndrome.
 However, in contrast to Mal de Meleda
syndrome, the palms and soles may be
spared in Greither's disease.

10.  Mal de Meleda syndrome is autosomal recessive;
the palmo-plantar keratoderma appears early after
birth and progressively involves other regions of
the body without a tendency for spontaneous
involution. It also has typical nail changes.

12.  Topical keratolytics including 5 – 10% salicylic
acid, 10% lactic acid, or 10% urea in a neutral
base.
 Oral retinoids are effective
 Total excision of hyperkeratotic skin followed
by grafts has been successful in a number of
cases.

13.  Palpmoplanter Keratoderma which involves
dorsal surface of Palms and soles after
involving the Palmer and Planter surfaces of
Palm and Soles

14. GRETHIER
Mal de Meleda Type
BOTHNIA
Olmsted Syndrome
Huriez Syndrome
Vohwinkel Syndrome
Papillon Lefevre Syndrome
CLOUSTON Syndrome

17.  Mal de Meleda is a rare disorder seen in
approximately 1 in 100,000 people.
 It was initially observed in inhabitants of the
Adriatic island of Meleda (Miljet).
 It is transmitted through an autosomal
recessive inheritance.

18.  Transgredient type of Palmoplanter
Keratoderma
 Hyperkeratosis present on kneee and elbow
joints
 Hyperhidrosis and fungal infections present

19.  Nail changes:
1. Koilonychia
2. Subungal Hyperkeratosis
 Other Features:
1. A ridged tongue,
2. webbed fingers or toes,
3. Hair on the palms or soles,
4. High arched palate (roof of the mouth)

21.  Transgredient Palmoplanter Keratoderma
 White spongy appearance upon exposure to
water
 Maceration and Fungal infections are
common

23.  Diffuse Transgredient honeycomb
keratoderma with annular constrictions
around the digits, accompanied by a mild
ichthyosis
 In true Vohwinkel syndrome, there is
impaired hearing but no generalized
ichthyosis

24.  Consanguineous Marriage
 Family History positive
 History of Collodion Baby or Ichthyosis Present
 Palmoplanter keratoderma present at Birth
 Ectodermal Features Present

25.  Clinically Characterized by:
1. Honey comb Palmoplanter Keratoderma
2. Icthyosis
3. Pseudoainhum

28. Treatment with:
 Keratolytics
 Emollients
 Oral retinoids
 Pseudoainhum is amenable to plastic repair

29.  At present, no gene therapy is available for
the management.
 All patients should receive genetic
counselling as LK is an autosomal disorder
and there is 50% chance of passing the trait
to the next generation.

31.  PPK Mutilans Vohwinkel is a rare disorder that
can be transmitted through an autosomal
dominant inheritance or an autosomal
recessive inheritance.
 The genetic defect has been traced to the
GJB2 gene and connexin 26.

32.  Presents in infants as a honeycomb-like
thickening of the skin on the palms and the
soles.
 Later-forming, constricting, fibrous bands on
the fingers and toes lead to progressive
strangulation and autoamputation.
 Starfish-shaped thickened skin may occur on
the tops of the fingers and knees.

33.  Other features:
1. Baldness
2. Deafness
3. Spastic impairment of the muscles
4. Nearsightedness Scaly skin,

34.  Vohwinkel syndrome has been successfully
treated by Etretinate and Acitretin
 The cicatricial bands released surgically
 Appropriate rehabilitation (hearing aids,
speech therapy ,language training, cochlear
implantation) for the hearing loss are
important to achieve auditory

37. GENETICS:
TRPV3 (Transient receptor potential vanilloid-3)
gene
MBTPS2 (membrane-bound transcription factor
protease, site 2) gene X Linked Form

38.  SKIN
Hyperkeratotic plaques (mouth, nose, eyes,
genital, anal, ears, navel)
HAIRS
Alopecia (diffuse, universal or patchy),
Hypotrichosis( sparse, thinning, curly, woolly,
coarse, dry or easily broken hair )

39. NAILS
 Dystrophic, lusterless, ridged, rough nails,
 Onychogryphosis,
 Leukonychia, irregular curvatures,
 Onycholysis,
 Paronychia,
 Subungual hyperkeratosis
 And even absence of nails

40.  ORAL CAVITY
 Leukokeratosis of the tongue or buccal mucosa
have been noted
 SWEATING
 Sweating abnormalities such as palmoplantar
hyperhidrosis
 EYE
 Corneal dystrophy, epithelial dysplasia and opacity

41.  Growth
 Delayed physical development leading to short
stature is frequently described in OS patient .
 Recurrent infections
 OS patients are prone to recurrent bacterial or
candidal infections in keratotic areas
 Atypical OS, with nonmutilating PPK and no
periorificial keratotic plaques, associated with
erythromelalgia is rarely observed

42.  Oral retinoids.
 Topical retinoids
 The clinical use of ( TRPV1) antagonists

45.  It is an autosomal recessive inherited disorder
of keratinization characterized by
 Palmoplanter Keratoderma
 Severe destructive periodontal disease
affecting both primary and permanent teeth,
caused by mutations in cathepsin C (CTSC)

46.  Widespread or focal thickened skin on the
palms and the soles.
 Unless treated, periodontitis results in severe
gum disease and loss of teeth by age 5.
 Patients may exhibit an increased
susceptibility to infection.

47.  Scaly, red lesions over knees, elbows, and
knuckles are occasionally observed.
 Excessive sweating and body odor.
 Other symptoms include
 Hyperhidrosis,
 Arachnodactyly,
 Intracranial calcification,
 Increased susceptibility to infections
 mental retardation.

48.  Usually, histopathologic features of PLS are
nonspecific.
 Skin of palms expressed thickening of the
epidermis, hypergranulosis, hyperkeratosis,
and mild mononuclear cell infiltrate of
papillary dermis.

50.  The investigations that may be required for diagnosis are:
 Hematological
 Hormone assay
 Height and weight calculation
 Urine analysis
 Alkaline phosphatase
 Radiological investigations, such as orthopantomograph,
intraoral periapical radiographs, and lateral cephalogram

52.  The differential diagnosis of this syndrome includes
1. Acrodynia,
2. Hypophosphatasia Rickets
3. Cyclic neutropenia.
4. ACRODYNIA
It differs from acrodynia or mercury poisoning by
the presence of erythrocyanosis, insomnia, muscle
pain, tachycardia, psychic disturbances, and teeth
erupting prematurely with dystrophic enamel.

53.  HYPOPHOSPHATEMIA RICKETS
 The clinical features of knock-knee, bowing of the
femur and the tibia, enlarged wrists, hypoplastic
teeth and increased amounts of
phosphoethanolamine in the urine differentiates
hypophosphatasia from this syndrome.
 CYCLIC NEUTROPENIA
 In cyclic neutropenia, the palmoplantar
hyperkeratosis is absent.

54.  The other conditions that can be included in
the differential diagnosis are Howel–Evans
syndrome, Greither syndrome, and keratosis
punctata. Even though all these entities are
associated with palmoplantar hyperkeratosis,
periodontopathy is not seen in them

55.  Dermatological manifestations of PLS are
usually treated with
 Emollients
 Salicylic acid
 Oral retinoids such as Acitretin, Etretinate,
and Isotretinoin.
 Retinoid treatment is usually started at the
time of eruption of successor teeth and is
followed until the completion of the normal
development process.

56.  Different treatment modalities of PLS may
include:
 Intensive periodontal therapy
 Maintenance of oral hygiene
 Extraction of teeth having poor prognosis
 Rehabilitation of patient’s oral cavity
 Alveolar bone augmentation
 Dental implants

61. What to be alert for, in the history:
i. Abnormally thick and wiry hair in infancy
ii. Progressive alopecia with age
iii. Progressively dystrophic nails
iv. Palmoplantar changes
v. Painful, swollen distal digits
vi. Normal sweating ability
vii. Normal teeth

62.  SKIN FINDINGS
i. Dry, rough skin
ii. Palmoplantar hyperkeratosis or
keratoderma with transgradiens
iii. Hyperpigmentation of the skin over the
joints, at the axillae, areolae, and pubic
area
iv. Thickened skin over the knees, elbows, and
hand joints
v. Normal sweating

63.  NAIL FINDINGS
i. Milky white nail plates in childhood
ii. Nail plates become progressively short,
dark and thick with age
iii. Distal onycholysis
iv. Micronychia
v. Paronychia common

64.  HAIR FINDINGS:
i. Dry, wiry and brittle
ii. Slow growing
iii. Light in color
iv. Progressive alopecia of the scalp hair
v. Sparse eyebrows and eyelashes
vi. Sparse body hair including secondary
sexual hair

65.  DENTAL/ORAL FINDINGS
i. Teeth usually normal
ii. Hypodontia is rare
iii. Natal teeth
iv. Dental caries

66.  OCULAR FINDINGS
i. Strabismus
ii. Cataracts
iii. Conjunctivitis/blepharitis
iv. Myopia

67.  OTHER FINDINGS
i. Clubbing of the fingers/tufting of terminal
phalanges
ii. Mental deficiency rare with normal
intelligence in most cases
iii. Thickening of skull bones
iv. Short stature

68.  Diagnostic studies
 --
 Light microscopy of hair with disorganized
fibrillar structure and reduced birefringence on
polarized light
 Hair shafts are abnormal and may be square
with longitudinal grooves and twisting
 Pigment in the hair may be absent
 Decreased cysteine and disulfide bonds in the
hair

69.  Skin biopsy of the scalp reveals a reduced
number of dystrophic hair follicles with
thickened connective tissue sheaths
 Genetic testing for the causative gene
mutation in gap junction protein beta 6
(GJB6)is expensive and rarely available

70.  Unna Thost keratoderma

 can present with palmoplantar keratoderma but can
be distinguished from HED2 by absence of hair and
nail changes
--
 Pachonychia congenita type 1
 presents with severe nail dystrophy and focal
palmoplantar hyperkeratosis but typically has normal
hair and can be distinguished by presence of oral
leukokeratosis and early eruption of teeth
--

71.  Dyskeratosis congenita
 presents with nail dystrophy and palmoplantar
hyperkeratosis but has reticulated
hyperpigmentation and oral leukoplakia with
associated pancytopenia
--
 Keratitis-icthyosis-deafness syndrome
 can present with dystrophic nails, palmoplantar
hyperkeratosis and alopecia but also has keratotic
plaques on the skin, sensorineural deafness and
keratitis

72. Medical treatment includes
 Use of emollients
 Topical keratolytics (urea or lactic acid based) for
softening of the nail plates and palmoplantar
hyperkeratosis,
 Topical retinoids with topical minoxidil for the
alopecia has reportedly been helpful

74. Clinical features
 Diffuse scleroatrophy of the hand,
 Mild PPK
 Hypoplastic nail changes
HISTOLOGY:
 Acanthosis + Hyperkeratosis
 Reduced numbers of Langerhans cells

75. Clinical features
 Diffuse scleroatrophy of the hand,
 Mild PPK
 Hypoplastic nail changes
HISTOLOGY:
 Acanthosis + Hyperkeratosis
 Reduced numbers of Langerhans cells